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3. Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: a new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome?

Author

Maria Leine Guion-Almeida, Fernanda Sarquis Jehee, Roseli Maria Zechi-Ceide, Kátia Maria da Rocha, and Maria Rita Passos-Bueno

Subjects
Hearing loss, Eye disease, ALOPECIA, Lower eyelid coloboma, Pregnancy, Genetics, medicine, Humans, Genetics (clinical), Coloboma, business.industry, Infant, Newborn, Eyelids, Infant, TCOF1 gene, Alopecia, Syndrome, Mandibulofacial dysostosis, Anatomy, medicine.disease, Cleft Palate, stomatognathic diseases, Johnson–McMillin syndrome, Child, Preschool, Female, Crowded teeth, medicine.symptom, business, Mandibulofacial Dysostosis
Abstract

We describe a patient with a phenotype characterized by mandibulofacial dysostosis with severe lower eyelid coloboma, cleft palate, abnormal ears, alopecia, delayed eruption and crowded teeth, and sensorioneural hearing loss. The karyotype and the screening for mutations in the coding region of TCOF1 gene were normal. The clinical signs of our case overlap the new mandibulofacial dysostosis described by Stevenson et al. [2007] and the case with Johnson-McMillin syndrome described by Cushman et al. [2005]. The similar clinical signs, mainly, the severe facial involvement observed in these cases suggest that they can represent a new distinct form of mandibulofacial dysostosis or the end of the spectrum of Johnson-McMillin syndrome.

Published
2010

4. Johnson-McMillin syndrome: report of a new case with novel features

Author

David D. Weaver, Lisa J. Cushman, and Wilfredo Torres-Martinez

Subjects
Embryology, Hearing loss, Hearing Loss, Conductive, Anosmia, Branchial arch, Hyposmia, Hypogonadotropic hypogonadism, Intellectual Disability, medicine, Humans, Abnormalities, Multiple, Ear, External, Genes, Dominant, business.industry, Neurocutaneous Syndromes, Alopecia, General Medicine, Anatomy, Syndrome, medicine.disease, Conductive hearing loss, Johnson neuroectodermal syndrome, Johnson–McMillin syndrome, Facial Asymmetry, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, business, Developmental Biology
Abstract

BACKGROUND Johnson-McMillin syndrome (JMS) is a rare neuroectodermal disorder characterized by alopecia, ear malformations, conductive hearing loss, anosmia/hyposmia, and hypogonadotropic hypogonadism. It is inherited in an autosomal dominant manner; however, the causative gene has not yet been identified. CASE Herein we report a patient with this condition who exhibits many of the features previously described, including alopecia, malformed auricles, conductive hearing loss, facial asymmetry, and developmental delays. Interestingly, she also has features that have not yet been reported, such as preauricular pits and tags, broad depressions at the lateral aspects of the eyes, and an abnormal left lower eyelid. CONCLUSIONS In addition to demonstrating a pattern of anomalies consistent with JMS, this patient has several unique features. This phenotype supports the involvement of the branchial arches in the embryologic basis of this condition. Birth Defects Research (Part A), 2005. © 2005 Wiley-Liss, Inc.

Published
2005

5. Johnson-McMillin syndrome, a neuroectodermal syndrome with conductive hearing loss and microtia: report of a new case

Author

Shoji Yano, John M. Graham, Dawn L. Earl, and Daniela N. Schweitzer

Subjects
Ectodermal dysplasia, Microcephaly, Polydactyly, business.industry, Hearing loss, Developmental Disabilities, Neurocutaneous Syndromes, Microtia, Hearing Loss, Conductive, Infant, Newborn, Infant, Anatomy, Choanal stenosis, medicine.disease, Conductive hearing loss, Johnson–McMillin syndrome, otorhinolaryngologic diseases, medicine, Humans, Abnormalities, Multiple, Female, medicine.symptom, business, Genetics (clinical)
Abstract

In 1983, Johnson et al. described 16 related individuals with alopecia, anosmia or hyposmia, conductive hearing loss, microtia and/or atresia of the external auditory canal, and hypogonadotrophic hypogonadism inherited in an autosomal dominant pattern. Other less constant manifestations included facial asymmetry, mental retardation, congenital heart defect, cleft palate, and choanal stenosis. An isolated case was reported later (Johnston et al. [1987: Am J Med Genet 26: 925-927]) and thereafter an affected mother and son (Hennekam and Holtus [1993: Am J Med Genet 47: 714-716]). We describe an additional unrelated female patient with features resembling those of the previously reported cases. She presented with intrauterine growth deficiency, microcephaly, alopecia, bilateral microtia with canal atresia, conductive hearing loss, partial left facial palsy, posterior cleft palate, left choanal stenosis, tetralogy of Fallot, developmental delay, and right thumb polydactyly. Because the phenotypic abnormalities in this syndrome affect the brain, facial structures, ectoderm and its derivatives, outflow tract of the heart, and Rathke's pouch derivatives, this has suggested to previous authors etiologic involvement of the ectoderm and neuroectoderm of the first and second branchial arches, Rathke's pouch, and the diencephalon. Microtia with conductive hearing loss differentiates the condition from other ectodermal dysplasias. In the initial report, females appeared somewhat less affected than males, and there was male-to-male transmission. The mother of our patient manifests subtle features, which suggest she may be a mildly affected female. Additionally, there is a family history of early-onset alopecia in the maternal grandfather's relatives.

Published
2003

6. Johnson-McMillin syndrome: report of another family

Author

Frank J. A. M. Holtus, Raoul C.M. Hennekam, and Other departments

Subjects
Adult, Male, medicine.medical_specialty, Hearing loss, Facial Paralysis, Hearing Loss, Conductive, Dental Caries, Olfaction Disorders, Hyposmia, Intellectual Disability, Café au lait spot, medicine, Humans, Growth Disorders, Genetics (clinical), Genes, Dominant, business.industry, Microtia, Alopecia, Ear, Syndrome, medicine.disease, Dermatology, Facial paralysis, Johnson–McMillin syndrome, Child, Preschool, Facial nerve palsy, Hypotrichosis, Female, medicine.symptom, business, Pigmentation Disorders
Abstract

We describe a mother and son with facial nerve palsy, multiple truncal café-au-lait spots, and mild developmental delay. The mother also had hyposmia, increased tendency to caries, and growth retardation, and the son hypotrichosis, hearing loss, and microtia. This apparently autosomal dominant disorder was described first by Johnson et al. [1983: Am J Med Genet 15:497-506] and Johnston et al. [1987: Am J Med Genet 26:925-927].

Published
1993
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8. ANO IMPERFORADO Y CATARATA CONGÉNITA EN EL SÍNDROME DE JOHNSON-MCMILLIN HALLAZGOS NO REPORTADOS O ADQUIRIDOS.

Author

Cammarata-Scalisi, Francisco, Da Silva, Gloria, Angelina Lacruz-Rengel, Maria, Colina, Rafael, and Guerrero, Yudith

Subjects
*IMPERFORATE anus, *CONGENITAL disorders, *CATARACT, *BALDNESS, *HAIR diseases
Abstract

Johnson et al. in 1983 described 16 related individuals with alopecia, anosmia or hyposmia, conductive hearing loss, microtia and/or atresia of the external auditory canal, and hypogonadotrophic hypogonadism inherited in an autosomal dominant pattern and variable expressivity. Other less constant manifestations included facial asymmetry, mental retardation, congenital heart defect, cleft palate, and choanal stenosis. Apart from these cases, only seven patients with Johnson-McMillin syndrome have been report. The pathogenesis of this entity is uncertain y the differential diagnosis is extensive. We describe an unrelated female patient of eight -month-old. Alopecia, microcephaly, facial palsy, cleft soft palate and abnormalities of ears were significant for diagnosis. Also, she presented other clinical signs no associated with the syndrome as imperforate anus and bilateral congenital cataract. [ABSTRACT FROM AUTHOR]

Published
2012

9. Johnson-McMillin syndrome (JMS): description of the first patient in Spain

Author

Martínez-Frías, ML, Arteaga, RM, Martínez-Fernández, Mª Luisa, and Bermejo-Sanchez, Eva

Subjects
Syndrome, Síndrome, Johnson-McMillin
Abstract

Dismorfología y Genética Clínica The JMS (OMIM: 147770) is a rare autosomal dominant neuroectodermal disorder characterized by alopecia, ear malformations, conductive hearing loss, anosmia/hyposmia, and hypogonadotropic hypogonadism. Morover, some additional features have been described so far (congenital heart defect, cleft palate, mild facial asymmetry, tendency to caries, and mental retardation). Herein we report on a patient with this condition who exhibits many of the features previously described, including alopecia, malformed auricles, conductive hearing loss, facial asymmetry, and developmental delay. Interestingly, she also has features that have not been reported yet, such as preauricular pits and tags, broad depressions at the external lateral areas close to the eyes, and an abnormal left lower Eyelid. This phenotype supports the involvement of the ectoderm and neuroectoderm of the first two branchial arches in the embryologic basis of this condition. Indeed, alopecia, dental anomalies, defects of the choanae, part of the palatal valves, hypothalamic axis and hypogonadotropic hypogonadism, of epidermic origin, are derived from the ectoderm. Other defects as craniofacial alterations, including inner ear, preauricular tags, ear pits, and even microtia, and facial palsy, are derived from the neural crest, as also are the cardiac malformations. As far as we have known, the patient described here, represents the first case published from Spain No

Published
2012

10. Johnson-McMillin syndrome: report of a new case with novel features.

Author

Cushman LJ, Torres-Martinez W, and Weaver DD

Subjects
Abnormalities, Multiple genetics, Alopecia genetics, Child, Preschool, Ear, External abnormalities, Facial Asymmetry genetics, Female, Genes, Dominant, Hearing Loss, Conductive genetics, Humans, Intellectual Disability genetics, Neurocutaneous Syndromes genetics, Syndrome, Abnormalities, Multiple physiopathology, Hearing Loss, Conductive physiopathology, Neurocutaneous Syndromes physiopathology
Abstract

Background: Johnson-McMillin syndrome (JMS) is a rare neuroectodermal disorder characterized by alopecia, ear malformations, conductive hearing loss, anosmia/hyposmia, and hypogonadotropic hypogonadism. It is inherited in an autosomal dominant manner; however, the causative gene has not yet been identified., Case: Herein we report a patient with this condition who exhibits many of the features previously described, including alopecia, malformed auricles, conductive hearing loss, facial asymmetry, and developmental delays. Interestingly, she also has features that have not yet been reported, such as preauricular pits and tags, broad depressions at the lateral aspects of the eyes, and an abnormal left lower eyelid., Conclusions: In addition to demonstrating a pattern of anomalies consistent with JMS, this patient has several unique features. This phenotype supports the involvement of the branchial arches in the embryologic basis of this condition., (Birth Defects Research (Part A), 2005. (c) 2005 Wiley-Liss, Inc.)

Published
2005
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11. Johnson-McMillin syndrome, a neuroectodermal syndrome with conductive hearing loss and microtia: report of a new case.

Author

Schweitzer DN, Yano S, Earl DL, and Graham JM Jr

Subjects
Abnormalities, Multiple genetics, Developmental Disabilities genetics, Developmental Disabilities physiopathology, Female, Hearing Loss, Conductive genetics, Humans, Infant, Infant, Newborn, Neurocutaneous Syndromes genetics, Abnormalities, Multiple physiopathology, Hearing Loss, Conductive physiopathology, Neurocutaneous Syndromes physiopathology
Abstract

In 1983, Johnson et al. described 16 related individuals with alopecia, anosmia or hyposmia, conductive hearing loss, microtia and/or atresia of the external auditory canal, and hypogonadotrophic hypogonadism inherited in an autosomal dominant pattern. Other less constant manifestations included facial asymmetry, mental retardation, congenital heart defect, cleft palate, and choanal stenosis. An isolated case was reported later (Johnston et al. [1987: Am J Med Genet 26: 925-927]) and thereafter an affected mother and son (Hennekam and Holtus [1993: Am J Med Genet 47: 714-716]). We describe an additional unrelated female patient with features resembling those of the previously reported cases. She presented with intrauterine growth deficiency, microcephaly, alopecia, bilateral microtia with canal atresia, conductive hearing loss, partial left facial palsy, posterior cleft palate, left choanal stenosis, tetralogy of Fallot, developmental delay, and right thumb polydactyly. Because the phenotypic abnormalities in this syndrome affect the brain, facial structures, ectoderm and its derivatives, outflow tract of the heart, and Rathke's pouch derivatives, this has suggested to previous authors etiologic involvement of the ectoderm and neuroectoderm of the first and second branchial arches, Rathke's pouch, and the diencephalon. Microtia with conductive hearing loss differentiates the condition from other ectodermal dysplasias. In the initial report, females appeared somewhat less affected than males, and there was male-to-male transmission. The mother of our patient manifests subtle features, which suggest she may be a mildly affected female. Additionally, there is a family history of early-onset alopecia in the maternal grandfather's relatives., (Copyright 2003 Wiley-Liss, Inc.)

Published
2003
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14. Johnson–McMillin syndrome, a neuroectodermal syndrome with conductive hearing loss and microtia: Report of a new case

Author

Schweitzer, Daniela N., Yano, Shoji, Earl, Dawn L., and Graham, John M.

Abstract

In 1983, Johnson et al. described 16 related individuals with alopecia, anosmia or hyposmia, conductive hearing loss, microtia and/or atresia of the external auditory canal, and hypogonadotrophic hypogonadism inherited in an autosomal dominant pattern. Other less constant manifestations included facial asymmetry, mental retardation, congenital heart defect, cleft palate, and choanal stenosis. An isolated case was reported later (Johnston et al. [1987: Am J Med Genet 26: 925–927]) and thereafter an affected mother and son (Hennekam and Holtus [1993: Am J Med Genet 47: 714–716]). We describe an additional unrelated female patient with features resembling those of the previously reported cases. She presented with intrauterine growth deficiency, microcephaly, alopecia, bilateral microtia with canal atresia, conductive hearing loss, partial left facial palsy, posterior cleft palate, left choanal stenosis, tetralogy of Fallot, developmental delay, and right thumb polydactyly. Because the phenotypic abnormalities in this syndrome affect the brain, facial structures, ectoderm and its derivatives, outflow tract of the heart, and Rathke's pouch derivatives, this has suggested to previous authors etiologic involvement of the ectoderm and neuroectoderm of the first and second branchial arches, Rathke's pouch, and the diencephalon. Microtia with conductive hearing loss differentiates the condition from other ectodermal dysplasias. In the initial report, females appeared somewhat less affected than males, and there was male-to-male transmission. The mother of our patient manifests subtle features, which suggest she may be a mildly affected female. Additionally, there is a family history of early-onset alopecia in the maternal grandfather's relatives. © 2003 Wiley-Liss, Inc.

Published
2003
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17. Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson–McMillin syndromeHow to cite this article: ZechiCeide RM, GuionAlmeida ML, Jehee FS, Rocha K, PassosBueno MRS. 2010. Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson–McMillin syndrome Am J Med Genet Part A 152A:1838–1840.

Author

ZechiCeide, Roseli Maria, GuionAlmeida, Maria Leine, Jehee, Fernanda Sarquis, Rocha, Katia, and PassosBueno, Maria Rita Santos

Abstract

We describe a patient with a phenotype characterized by mandibulofacial dysostosis with severe lower eyelid coloboma, cleft palate, abnormal ears, alopecia, delayed eruption and crowded teeth, and sensorioneural hearing loss. The karyotype and the screening for mutations in the coding region of TCOF1gene were normal. The clinical signs of our case overlap the new mandibulofacial dysostosis described by Stevenson et al. 2007 and the case with Johnson–McMillin syndrome described by Cushman et al. 2005. The similar clinical signs, mainly, the severe facial involvement observed in these cases suggest that they can represent a new distinct form of mandibulofacial dysostosis or the end of the spectrum of Johnson–McMillin syndrome. © 2010 WileyLiss, Inc.

Published
2010
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19. Johnson-McMillin microtia syndrome: New additional family

Author

Nagwa Abdel-Meguid, Ola Hosny Gebril, Ehab Ragaa Abdelraouf, Mohammed Akmal Shafie, and Mohammed Bahgat

Subjects
Congential anomalies, Johnson-McMillin syndrome, microtia, neuroectodermal, Medicine
Abstract

Microtia is a congenital anomaly that is found with different prevalence among various populations. The exact etiology of ear anomalies is still unknown. We describe a new additional family with this rare disorder; Johnson-McMillin syndrome (JMS) where mother, son, and distant grandmother have multiple features of JMS in the form of microtia, facial asymmetry, ear malformation, hearing defect, and hypotrichosis. Variable presentations in this family could be referred to phenotype variation supporting an autosomal dominant pattern of inheritance. We observed that the mother was very sad and suffered from feelings of guilt. We found that she had isolated herself from family and community out of fear of being stigmatized and hurt. We concluded that the occurrence of microtia is of public health importance, adhering to traditional marriage customs in Egypt increases women′s risk of giving birth to a disabled child, yet the mothers are blamed and shamed for their children′s birth defects by their husbands, families, and communities, while the fathers are not stigmatized.

Published
2014
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20. Endothelin signaling in development.

Author

Kanai, Stanley M. and Clouthier, David E.

Subjects
ENDOTHELINS, REGULATION of blood pressure, PREPROENDOTHELIN, ENDOTHELIN receptors, NEURAL crest, NEURAL development
Abstract

Since the discovery of endothelin 1 (EDN1) in 1988, the role of endothelin ligands and their receptors in the regulation of blood pressure in normal and disease states has been extensively studied. However, endothelin signaling also plays crucial roles in the development of neural crest cell-derived tissues. Mechanisms of endothelin action during neural crest cell maturation have been deciphered using a variety of in vivo and in vitro approaches, with these studies elucidating the basis of human syndromes involving developmental differences resulting from altered endothelin signaling. In this Review, we describe the endothelin pathway and its functions during the development of neural crest-derived tissues. We also summarize how dysregulated endothelin signaling causes developmental differences and how this knowledge may lead to potential treatments for individuals with gene variants in the endothelin pathway. [ABSTRACT FROM AUTHOR]

Published
2023
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21. Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia.

Author

Gordon, Christopher T., Weaver, K. Nicole, Zechi-Ceide, Roseli Maria, Madsen, Erik C., Tavares, Andre L.P., Oufadem, Myriam, Kurihara, Yukiko, Adameyko, Igor, Picard, Arnaud, Breton, Sylvain, Pierrot, Sébastien, Biosse-Duplan, Martin, Voisin, Norine, Masson, Cécile, Bole-Feysot, Christine, Nitschké, Patrick, Delrue, Marie-Ange, Lacombe, Didier, Guion-Almeida, Maria Leine, and Moura, Priscila Padilha

Subjects
*GENETIC mutation, *ENDOTHELIN receptors, *MANDIBULOFACIAL dysostosis, *BALDNESS, *CELLULAR signal transduction, *HUMAN genetic variation
Abstract

The endothelin receptor type A (EDNRA) signaling pathway is essential for the establishment of mandibular identity during development of the first pharyngeal arch. We report four unrelated individuals with the syndrome mandibulofacial dysostosis with alopecia (MFDA) who have de novo missense variants in EDNRA . Three of the four individuals have the same substitution, p.Tyr129Phe. Tyr129 is known to determine the selective affinity of EDNRA for endothelin 1 (EDN1), its major physiological ligand, and the p.Tyr129Phe variant increases the affinity of the receptor for EDN3, its non-preferred ligand, by two orders of magnitude. The fourth individual has a somatic mosaic substitution, p.Glu303Lys, and was previously described as having Johnson-McMillin syndrome. The zygomatic arch of individuals with MFDA resembles that of mice in which EDNRA is ectopically activated in the maxillary prominence, resulting in a maxillary to mandibular transformation, suggesting that the p.Tyr129Phe variant causes an EDNRA gain of function in the developing upper jaw. Our in vitro and in vivo assays suggested complex, context-dependent effects of the EDNRA variants on downstream signaling. Our findings highlight the importance of finely tuned regulation of EDNRA signaling during human craniofacial development and suggest that modification of endothelin receptor-ligand specificity was a key step in the evolution of vertebrate jaws. [ABSTRACT FROM AUTHOR]

Published
2015
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22. Endothelin 2: a key player in ovulation and fertility.

Author

Ko, CheMyong J., Yoon Min Cho, Ham, Eugene, Cacioppo, Joseph A., and Chan Jin Park

Subjects
OVULATION, ENDOTHELINS, FERTILITY, GRANULOSA cells, CELL contraction, EMERGENCY contraceptives
Abstract

Ovulation is the fundamental biological process during which an oocyte is expelled from the ovary, and it is an essential step toward establishing a pregnancy. Understanding regulatory mechanisms governing the ovulation process is essential for diagnosing and treating causes of infertility, identifying contraceptive targets, and developing novel contraception methods. Endothelin-2 (EDN2) is a 21 amino acid-long peptide that is transiently synthesized by granulosa cells of the ovulatory follicle prior to ovulation and plays an essential role in ovulation via promoting contraction in the myofibroblast cells of the theca layer of the follicle. This review describes the organization of the endothelin system, summarizes recent findings on the expression and synthesis of the endothelin system in the ovary, illustrates the roles that EDN2 plays in regulating ovulation, and discusses EDN2 as a potential target of contraception. [ABSTRACT FROM AUTHOR]

Published
2022
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23. Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family.

Author

Chen, Guangmin, Zhou, Ling, Chen, Qimou, Wang, Juan, Jiang, Peng, Shen, Rufei, Long, Min, and Zhou, Houdi

Subjects
GENETIC variation, GENETIC disorders, HEARING disorders, SYMPTOMS, SYNDROMES
Abstract

Woodhouse-Sakati syndrome (WSS, MIM 241080) is a rare neuroendocrine disease characterized by hair loss, hypogonadism, diabetes, hearing loss, and extrapyramidal syndrome, and is usually caused by mutations in the DCAF17 gene as an inherited disease. DCAF17 plays an important role in mammalian gonadal development and infertility. So far, there have been no WSS reports in China. The patient introduced in this case is from a consanguineous family. The main symptoms of the patient were alopecia and gonadal agenesis. Other symptoms such as hearing loss, intellectual disability, and hyperglycemia were remarkable, and these symptoms are often observed in WSS patients. We found a nonsense mutation in the 11th exon of the gene DCAF17 (Refseq: NM_025000) in the patient and her younger brother, which confirmed the diagnosis of WSS. The genetic results also showed that the mutation was inherited from their healthy first-cousin parents. [ABSTRACT FROM AUTHOR]

Published
2021
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25. Microtia: A Combined Approach by Genetics and Audiology

Author

Elham El-Saiid, Salwa Mahmoud, Hoda Abu Moussa, Nagwa Meguid, and Ehab Ragaa

Subjects
audiometry, fluorescence in-situ hybridisation, genetics, hearing loss, microtia, Treacher Collins, Otorhinolaryngology, RF1-547
Abstract

En Abstract Introduction Microtia is a condition in which the external portion of the ear (the auricle) is malformed. In the strictest definition, there is also narrowing or absence of the external auditory canal (external auditory meatus). Microtia varies in severity from barely discernible to an external ear with major structural changes. Hearing loss is a common feature that can be associated with microtia. There are different types of hearing loss–conductive, sensorineural, or mixed–depending on which part of the ear is not working as it should. Objectives The present study was designed with the following aims: (i) identification of the genetic etiology and patterns of inheritance of microtia for proper genetic counseling; (ii) early detection and identification of associated hearing impairment for proper management including use of a hearing aid and surgical intervention. Patients and methods Twenty children with microtia ranging in age between 1 and 15 years (mean: 6.2 ± 3.68 years) irrespective of sex were included in this study: 14 males and six females. All children were subjected to a full assessment of medical history, a general examination, an ENT examination, tympanometry, pure tone audiometry, and an auditory steady-state response test for patients not responding to a conventional audiometric test. Karyotyping, fluorescence in-situ hybridization (FISH) for Treacher Collins cases, radiological investigations, and fundus examination were also performed. Results Syndromic microtia was more frequent than nonsyndromic microtia. Treacher Collins syndrome was the most clinically diagnosed syndrome, followed by Goldenhar’s syndrome. There was one case of Down’s syndrome and another single case of Johnson–McMillin syndrome. Meatal atresia and preauricular tags were frequently present in the microtia cases, whereas middle ear and inner ear anomalies were only found in some cases. The most common presenting symptom of microtia is hearing loss. Its degree and type differ according to the severity of the disease and frequencies affected. In total, 88.5% (23 ears) have conductive hearing loss and 11.5% (three ears) have mixed hearing loss. Karyotyping was performed for 10 cases; nine cases were normal, whereas one case was abnormal (47XY, +21) (Down’s syndrome), which represents 5% of all cases studied. FISH was performed for four cases of Treacher Collins syndrome using a probe for chromosome 5 with gene map locus 5q31q33, but no deletion was found in the chromosome 5 Treacher Collins–Franceschetti 1 (TCOF1) gene. Conclusion Genetic predisposition for both autosomal dominant and autosomal recessive inheritance seems to be a strong determinant factor in the etiology of microtia than the environmental one. As for Treacher Collins, which is the most frequently clinically diagnosed syndrome in the current study, the FISH study showed that the 5q31-q33 locus may not carry the causative mutation as no single case was positive for this locus. Hearing impairment, of the conductive type, is the most frequent symptom that leads parents to seek medical advice and genetic counseling.

Published
2016
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26. Mandibulofacial dysostosis Bauru type: Refining the phenotype.

Author

Moura, Priscila P., Kokitsu‐Nakata, Nancy M., Yatabe, Marília S., Vendramini‐Pittoli, Siulan, Hori, Pedro H., Guion‐Almeida, Maria L., Garib, Daniela G., Richieri‐Costa, Antonio, and Zechi‐Ceide, Roseli M.

Abstract

Mandibulofacial dysostosis (MFD) Bauru type (OMIM 604830) is a rare genetic condition characterized mainly by malar hypoplasia, orofacial cleft, and micrognathia. Here, we describe the clinical and radiographic sings of 13 individuals (12 female and 1 male) from eight unrelated kindreds with MFD Bauru type, including four previously reported cases, treated at the Hospital for Rehabilitation of Craniofacial Anomalies. The clinical phenotype was characterized by severe underdevelopment of mandible, midface hypoplasia, orofacial cleft, bitemporal narrowing, mild upper eyelid down slanting, high nasal bridge, thick and everted lower lip, minor ears abnormalities, and hearing loss. Radiographic aspects included downslanting of zygomatic arch, maxillary hypoplasia, microretrognathia, hypoplastic mandibular condyles, and ectopic external auditory canal. Recurrence was observed in two of eight families and the affected distribution pattern was compatible with autosomal dominant inheritance in one and autosomal recessive in another, indicating possible genetic heterogeneity for this condition. Clinical and radiographic findings in this report contribute to the delineation of this rare MFD. [ABSTRACT FROM AUTHOR]

Published
2017
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27. Viable Ednra mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation.

Author

Sabrautzki, Sibylle, Sandholzer, Michael, Przemeck, Gerhard, Vargas Panesso, Ingrid, Vernaleken, Alexandra, Rozman, Jan, Rathkolb, Birgit, Gau, Christine, Hans, Wolfgang, Hoelter, Sabine, Becker, Lore, Fuchs, Helmut, Gailus-Durner, Valerie, Klopstock, Thomas, Stefanie, Leuchtenberger, Strom, Tim, Wurst, Wolfgang, Angelis, Martin, Lorenz-Depiereux, Bettina, and Brommage, Robert

Subjects
MANDIBULOFACIAL dysostosis, ALOPECIA areata, ENDOTHELIN receptors, MICE genetics, CRANIOFACIAL abnormalities, GENETICS
Abstract

Animal models resembling human mutations are valuable tools to research the features of complex human craniofacial syndromes. This is the first report on a viable dominant mouse model carrying a non-synonymous sequence variation within the endothelin receptor type A gene ( Ednra c.386A>T, p.Tyr129Phe) derived by an ENU mutagenesis program. The identical amino acid substitution was reported recently as disease causing in three individuals with the mandibulofacial dysostosis with alopecia (MFDA, OMIM 616367) syndrome. We performed standardized phenotyping of wild-type, heterozygous, and homozygous Ednra mice within the German Mouse Clinic. Mutant mice mimic the craniofacial phenotypes of jaw dysplasia, micrognathia, dysplastic temporomandibular joints, auricular dysmorphism, and missing of the squamosal zygomatic process as described for MFDA-affected individuals. As observed in MFDA-affected individuals, mutant Ednra mice exhibit hearing impairment in line with strong abnormalities of the ossicles and further, reduction of some lung volumetric parameters. In general, heterozygous and homozygous mice demonstrated inter-individual diversity of expression of the craniofacial phenotypes as observed in MFDA patients but without showing any cleft palates, eyelid defects, or alopecia. Mutant Ednra mice represent a valuable viable model for complex human syndromes of the first and second pharyngeal arches and for further studies and analysis of impaired endothelin 1 (EDN1)-endothelin receptor type A (EDNRA) signaling. Above all, Ednra mice model the recently published human MFDA syndrome and may be helpful for further disease understanding and development of therapeutic interventions. [ABSTRACT FROM AUTHOR]

Published
2016
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28. Perspectives in Pediatric Pathology, Chapter 18. Hypogonadotropic Hypogonadisms. Pediatric and Pubertal Presentations.

Author

Nistal, Manuel, Paniagua, Ricardo, González-Peramato, Pilar, and Reyes-Múgica, Miguel

Subjects
HYPOGONADISM, KLINEFELTER'S syndrome in children, PEDIATRIC pathology, NEUROBLASTOMA, PROTEIN precursors, GENETICS, PROGNOSIS
Abstract

The authors discusses the findings of a study which reveals the genetic and environmental factors and risks of hypogonadotropic hypogonadisms among infants and young children. The authors examine the pathology related to an abnormal development of puberty and embryonal development in anatomic structures. The authors also notes on the genes involved in the migration of neuroblasts precursors.

Published
2016
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29. Isolated and syndromic forms of congenital anosmia.

Author

Karstensen, HG and Tommerup, N

Subjects
SMELL disorders, GENETIC disorders, FAMILIAL diseases, PAIN, OLFACTORY nerve, ANIMAL models in research
Abstract

Karstensen HG, Tommerup N. Isolated and syndromic forms of congenital anosmia. Loss of smell (anosmia) is common in the general population and the frequency increases with age. A much smaller group have no memory of ever being able to smell and are classified as having isolated congenital anosmia (ICA). Families are rare, and tend to present in a dominant inheritance pattern. Despite a strong degree of heritability, no human disease-causing mutations have been identified. Anosmia is part of the clinical spectrum in various diseases, as seen in Kallmann syndrome, various ciliopathies and congenital insensitivity to pain. This review will focus on ICA through already published families and cases as well as syndromes where anosmia is part of the clinical disease spectrum. Furthermore, olfactory signal transduction pathway genes and animal models may shed light on potential candidate genes and pathways involved in ICA. [ABSTRACT FROM AUTHOR]

Published
2012
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31. Reports summarize cleft palate research from University of Sao Paulo, Department of Clinical Genetics

Subjects
Cleft palate -- Research -- Reports, Universities and colleges -- Reports, Pharmaceuticals and cosmetics industries, Health, University of Sao Paulo -- Reports
Abstract

Research findings, 'Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome,' are discussed in a [...]

Published
2010

32. Schachner and Hansen's Pediatric Dermatology (2 Volumes)

Author

Torrelo Antonio and Torrelo Antonio

Abstract

Schachner and Hansen's Pediatric Dermatology has been the gold-standard reference in pediatric dermatology for more than 33 years. The new edition is a comprehensive textbook covering all the skin conditions of children and adolescents in a two-volume masterwork that will meet the expectations of pediatric dermatologists, dermatologists, pediatricians and all who provide pediatric healthcare.

Published
2023

33. The Clinician's Guide to Dermatologic Differential Diagnosis

Author

Paul I. Schneiderman, Marc E. Grossman, Paul I. Schneiderman, and Marc E. Grossman

Subjects
Diagnosis, Differential, Skin--Diseases--Diagnosis
Abstract

Over a decade has passed since the original edition of The Clinician's Guide to Dermatologic Differential Diagnosis first came out. This massive two volume, second edition undertaking features over 4,000 new photographs of rare and puzzingly symptoms, 98 new chapters, and presents a complete update on all references and new findings since the original publication. This two volume set is designed to assist in the diagnosis of skin disease by presenting a unique and comprehensive approach to differential diagnosis. Organized alphabetically by physical finding each book in the set is meticulously put together for utility and usability. Volume 1 features a comprehensive list of the variety of physical findings a patient might have. It is the text of the work. Volume 2 serves as the atlas with which to cross reference a physical finding. It includes over 10,000 patient photos and strives to feature the rarer, more difficult to encounter pictures to arm the reader with knowledge beyond the basic. Created purely with the reader in mind, The Clinician's Guide to Dermatologic Differential Diagnosis, 2nd Edition strives to enhance the learning and teaching of differential diagnosis within dermatology. These texts are for the patient that defies diagnosis, going through checklists of diseases ensures that no clue is missed in aiding the patient. The sincere hope is that these companion volumes will be helpful in all clinical setting from medical clinic and other specialty clinics to the Dermatology clinic, from medical students to attendings, and from the nurses to the physicians assistants, whether in the academic setting or in the community environment anywhere in the world.

Published
2021

34. Maxillofacial Surgery : 2-Volume Set

Author

Peter A. Brennan, Henning Prof Dr Schliephake, G.E. Dr. Ghali, Luke Cascarini, Peter A. Brennan, Henning Prof Dr Schliephake, G.E. Dr. Ghali, and Luke Cascarini

Subjects
Maxilla--Surgery, Face--Surgery
Abstract

Now in full color, Maxillofacial Surgery, 3rd Edition covers the entire specialty of maxillofacial surgery, including craniofacial deformity, oral surgery, trauma, and oncology. Unlike other OMFS texts where the contributors are singly boarded in oral surgery, this richly illustrated text boasts OMFS contributors who are all dual boarded in both oral surgery and medicine. Thoroughly updated with evidence-based content, it addresses the advances in technology and procedures providing oral and maxillofacial surgeons with new and exciting treatment options. And with print and digital formats, it is easy to use in any setting. - Authoritative guidance on oral and maxillofacial surgery by internationally recognized experts in the field. - 2,800 illustrations, including radiographs and full color artwork and clinical photos, provide clinicians and OMS residents with a clear visual guide to diagnoses, key concepts, and surgical techniques, as well as examples of preoperative and postoperative results. - A multidisciplinary approach reflects the best practices in the disciplines of oral and maxillofacial surgery, head and neck surgery, plastic surgery, and otolaryngology. - Covers contemporary techniques and technological advances at the forefront of maxillofacial surgery. - Evidence-based content supports the newest, most up-to-date diagnostic and therapeutic options available for a wide variety of clinical problems. - Key Points and Pitfalls boxes clearly identify the most important information, as well as potential problem areas that can arise when treating patients. - Available in print and digital formats that can be easily accessed via mobile tablets and smart phones in any setting, making it perfect for the modern student of surgery. - NEW! Full-color images clearly depict pathologies, concepts, and procedures. - EXPANDED and UPDATED! Expanded from 82 to 111 chapters with thoroughly revised content that reflects current information and advances in OMS, so clinicians and students can depend on this text as their go-to resource on oral maxillofacial surgery. - NEW! 29 new state-of-the-art chapters covering new topics, including the salivary glands, thyroid and parathyroid glands, tissue engineering, navigational surgery, 3D modeling, and lasers in OMFS. - NEW! Two new editors, Professors Brennan and Schliephake, and new section editors and contributors have helped bring advances in the field of oral and maxillofacial surgery and offer a fresh perspective. - UPDATED! Expanded chapter on cancer keeps you in the know.

Published
2017

35. Hurwitz Clinical Pediatric Dermatology E-Book : A Textbook of Skin Disorders of Childhood and Adolescence

Author

Amy S Paller, Anthony J. Mancini, Amy S Paller, and Anthony J. Mancini

Subjects
Children, Infants, Pediatric dermatology, Skin--Diseases
Abstract

This must-have clinical reference, by Drs. Amy S. Paller and Anthony J. Mancini, provides practical, authoritative guidance for identification and management of all types of skin disorders seen in children and adolescents. Hurwitz Clinical Pediatric Dermatology, 5th Edition, is ideal for pediatricians, dermatologists, family practitioners and anyone who sees children with skin disorders – no matter what level of experience you may have. Benefit from the knowledge and expertise of two leaders in the field, who provide a clearly written, consistent approach throughout the text. Stay on the cutting edge of what's new in pediatric dermatology – from the neonate to the adolescent - with the latest drug developments and disease classifications. Recognize virtually any skin condition you're likely to see thanks to more than 1,000 high-quality color images, including over 300 brand new to this edition. Find the most appropriate therapy options with updated evidence based guidance. Easily locate the information you need with more quick-reference boxes and summary tables throughout the text.

Published
2016

36. Eye Pathology : An Illustrated Guide

Author

Steffen Heegaard, Hans Grossniklaus, Steffen Heegaard, and Hans Grossniklaus

Subjects
Eye--Diseases--Pathogenesis
Abstract

This book is a comprehensive, in-depth, and up-to-date resource on eye pathology that will be of great practical value for ophthalmic and general pathologists and ophthalmologists. Congenital abnormalities, inflammatory conditions, infections, injuries, degenerative diseases, and tumors are all covered with the aid of more than 700 images. In the case of tumors, the wide variety of neoplasms that occur in the eyelid, conjunctiva, retina, uveal tract, lacrimal gland and sac, orbit, and optic nerve are comprehensively reviewed, and the most recent knowledge on the relation between genetics and prognosis is presented. Entries on specific diseases are organized in a standard way, with information on etiology, epidemiology, clinical presentation, pathological characteristics, differential diagnosis, therapy, and prognosis. The authors are all recognized experts and members of the European and American ophthalmic pathology societies.​

Published
2015

37. Signs and Symptoms of Genetic Conditions : A Handbook

Author

Louanne Hudgins, Helga V. Toriello, Gregory M. Enns, H. Eugene Hoyme, Louanne Hudgins, Helga V. Toriello, Gregory M. Enns, and H. Eugene Hoyme

Subjects
Diagnosis, Differential, Genetic screening, Genetic disorders, Symptoms--Handbooks, manuals, etc, Children
Abstract

Connecting an abnormal physical exam to a possible genetic condition is a daunting and inexact task for any physician, be they a primary care provider, non-geneticist specialist, or fellowship-trained geneticist. Comprising 31 clinical protocols from the world's foremost clinical geneticists, Signs and Symptoms of Genetic Conditions provides a practical manual for the diagnosis and management of common human genetic conditions based on their presenting signs and/or symptoms. Each chapter examines a specific clinical finding and leads the user through a step-by-step approach to a differential diagnosis. To maximize clinical utility, this handbook features: · Prominent flow chart diagrams that graphically depict the diagnostic approach · Concise recommendations for laboratory and/or imaging studies · Health supervision and management strategies for the most common conditions associated with each presenting sign or symptom Whether for the student, resident, or seasoned clinician, Signs and Symptoms of Genetic Conditions will serve as a frontline resource for navigating differential diagnosis.

Published
2014

38. Urologic Surgical Pathology

Author

Bostwick, David G., Cheng, Liang, Bostwick, David G., and Cheng, Liang

Subjects
Medical personnel, Diseases, Generative organs, Male--Diseases, Genitourinary organs--Histopathology, Pathology, Surgical, Genitourinary organs--Diseases, Urinary organs--Diseases
Abstract

With sweeping revisions throughout, the new edition of Urologic Surgical Pathology equips you to accurately diagnose specimens of the entire urinary tract and male reproductive system plus the adrenal glands. Comprehensive in scope, this title begins with a look at normal anatomy and histology for each organ system...followed by discussions of the pathology of congenital anomalies, inflammations, non-neoplastic diseases and neoplasia. Practical guidance in daily urological pathology sign-out and the latest recommended diagnostic approaches — with an emphasis on clinicopathologic and radiographic-pathologic correlations — makes this a true diagnostic decision-making medical reference. A consistent format enables you to locate critical information quickly, and more than 1600 high-quality illustrations — most in full color — make diagnosis even easier. Consult this title on your favorite e-reader, conduct rapid searches, and adjust font sizes for optimal readability. Rely on the practice-proven experience of today's authorities to identify and diagnose with confidence. Confirm your diagnostic suspicions by comparing your findings to more than 1600 color images and color graphics. Quickly locate the specific information you need through an abundance of tables, diagrams and flowcharts; boxed lists of types and causes of diseases; differential diagnosis; characteristic features of diseases; complications; classifications; and staging. Stay current with the latest information on: differential diagnosis for all tumor types encountered in urological surgical pathology practice; urologic tumor specimen handling and reporting guidelines; new entities and updated classification schemes; and newer immunohistochemical and genetic diagnostic methods. Develop targeted therapy specific to a particular patient's problem based on key molecular aspects of disease, especially in relevance to targeted therapy/personalized medicine. Provide the clinician with the most accurate diagnostic and prognostic indicators, by incorporating the latest classification and staging systems in your reports. Deepen your understanding of new diagnostic biomarkers and their utility in differential diagnosis.

Published
2014

39. Hereditary Hearing Loss and Its Syndromes

Author

Helga V. Toriello, Shelley D. Smith, Helga V. Toriello, and Shelley D. Smith

Subjects
Deafness--Genetic aspects, Hearing disorders--Genetics
Abstract

This is the third edition of the foremost medical reference on hereditary hearing loss. Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular diagnosis and on genetic susceptibility to ototoxic factors have been added. As in previous editions, the syndromes are grouped by system (visual, metabolic, cardiologic, neurologic, musculoskeletal, endocrine, etc.), with each chapter written by a recognized expert in the field. Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and for researchers in the hearing sciences.

Published
2013

40. Otoplasty : Aesthetic and Reconstructive Techniques

Author

Jack Davis and Jack Davis

Subjects
Otoplasty, Ear, External--surgery, Surgery, Plastic--methods
Abstract

In keeping with my longstanding interest in the surgical corrrection of external ear deformities, I have followed Jack Davis'contributions to this challenging type of reconstructive and aesthetic plastic surgery since I read his first article in 1951. As a longtime good friend of Jack in our roles as editors of the journal, Aesthetic Plastic Surgery, and as past presidents of the International Society of Aesthetic Plastic Surgery (ISAPS), I have kept up­ to-date in reading his numerous accomplishments in external ear surgery for these past 46 years. The reader might find it reassuring to learn that in this period of 4t decades, Jack Davis has contributed to our specialty 42 separate articles, lec­ tures, discussions, chapters, and other items describing external ear surgery. In 1978 in our journal, Aesthetic Plastic Surgery, he presented an excellent re­ view article on'History of the Aesthetic Surgery of the Ear,'which was co­ authored with the assistance of Horacio H. Hernandez. This same subject was also presented in 1985 in a chapter in an ISAPS book devoted to the'The Creation of Aesthetic Plastic Surgery.'Even more importantly, and historically, Davis gave us his opus magnum publication in 1987, Aesthetic and Reconstructive Otoplasty, which covered almost every conceivable aspect of these types of surgery in its 581 pages.

Published
2012

41. Dermatology

Author

Bolognia, Jean and Bolognia, Jean

Subjects
Dermatology
Abstract

Dermatology, edited by world authorities Jean L. Bolognia, MD, Joseph L. Jorizzo, MD, and Julie V. Schaffer, MD, is an all-encompassing medical reference book that puts the latest practices in dermatologic diagnosis and treatment at your fingertips. It delivers more comprehensive coverage of basic science, clinical practice, pediatric dermatology, and dermatologic surgery than you'll find in any other source. Whether you're a resident or an experienced practitioner, you'll have the in-depth, expert, up-to-the-minute answers you need to overcome any challenge you face in practice. Find answers fast with a highly user-friendly,'easy-in-easy-out'format and a wealth of tables and algorithms for instant visual comprehension. Get full exposure to core knowledge with coverage of dermatology's entire spectrum of subspecialties. See just the essential information with'need-to-know'basic science information and key references. Expedite decision making and clarify complex concepts with logical tables, digestible artwork, and easy-to-grasp schematics. Visualize more of the conditions you see in practice with over 3500 illustrations, of which over 1,400 are new: 1,039 clinical images, 398 pathology slides, and 152 schematics. Stay at the forefront of your field with updated treatment methods throughout, as well as an increased focus on patients with skin of color. Get an enhanced understanding of the foundations of dermatology in pathology, the clinical setting, and dermoscopy with a completely rewritten introductory chapter. Better comprehend the clinical-pathological relationship of skin disease with increased histologic coverage. Bolognia's Dermatology is the ultimate multimedia reference for residents in training AND the experienced practitioner.

Published
2012

42. Dermatology

Author

Asher, Marshall and Asher, Marshall

Subjects
Dermatology
Abstract

Chapter 1 - Dermatology Chapter 2 - Teledermatology Chapter 3 - Cutaneous Conditions Chapter 4 - Acne Vulgaris Chapter 5 - Hidradenitis Suppurativa Chapter 6 - Bullous Pemphigoid and Dermatitis Herpetiformis Chapter 7 - Transient Acantholytic Dermatosis and Pemphigus Vulgaris Chapter 8 - Skin Neoplasm Chapter 9 - Mucous Cyst of the Oral Mucosa and Ameloblastoma Chapter 10 - Aphthous Ulcer Chapter 11 - Herpes Simplex Chapter 12 - Alopecia Areata Chapter 13 - Vitiligo Chapter 14 - Liposuction Chapter 15 - Skin Allergy Test Chapter 16 - List of Cutaneous Conditions

Published
2012

43. Differential Diagnosis for the Dermatologist

Author

Scott Jackson, Lee T. Nesbitt, Scott Jackson, and Lee T. Nesbitt

Subjects
Skin--Diseases--Diagnosis, Diagnosis, Differential
Abstract

When faced with a challenging dermatologic problem, physicians are often required to perform a time-consuming search through large dermatologic texts in order to find information that will assist in the necessary differential diagnosis. This comprehensive and concise handbook is designed to simplify this process dramatically, permitting rapid identification of the correct diagnosis. Hundreds of dermatologic diagnoses, morphologic features, drug-induced disorders, extracutaneous manifestations, histologic findings, and random other findings are listed in alphabetical order and in a homogeneous, reader-friendly structure. The differential diagnoses are shown under each main diagnosis, sorted according to similarity with that diagnosis. Since the first edition, approaching 50 new diagnoses have been added, and many new images included. This easily portable book will be of great value for dermatologists and all who deal with dermatologic diseases.

Published
2012

44. Hurwitz Clinical Pediatric Dermatology : A Textbook of Skin Disorders of Childhood and Adolescence

Author

Amy S. Paller, Anthony J. Mancini, Amy S. Paller, and Anthony J. Mancini

Subjects
Dermatology, Pediatric dermatology, Skin--Diseases
Abstract

Hurwitz Clinical Pediatric Dermatology, by Amy S. Paller, MD and Anthony J. Mancini, MD, gives you easy access to the practical, definitive guidance you need to expertly identify and manage all types of skin disorders seen in children. Continuing the legacy of Dr. Sidney Hurwitz's beloved reference, it covers all pediatric dermatoses in a thorough, yet efficient and accessible way, enabling you to get the answers you need quickly and provide your patients with the most effective care. This edition brings you up to date on the latest classification schemes, the molecular basis for genetic skin disorders, atopic dermatitis, hemangiomas, viral disorders, bites and infestations, hypersensitivity disorders, collagen vascular disorders, bacterial and fungal infections, psoriasis, contact dermatitis, and much more. A thousand full-color photographs help you to recognize the characteristic manifestations of every type of skin disease. Hurwitz remains the indispensible pediatric dermatology resource you need for optimal practice. Efficiently locate the answers you need with a remarkably concise, practical, clinically focused reference that minimizes redundancy and offers an ideal ratio of text to figures and tables. Overcome challenges in pediatric dermatology with confidence with a wealth of clinical'pearls'from Amy S. Paller, MD and Anthony J. Mancini, MD - esteemed leaders in the field who possess significant experience in both research and clinical practice. Stay on the cutting edge of the latest diagnostic, therapeutic, and research advances with updated and expanded coverage of the most recent classification schemes, the molecular basis for genetic skin disorders, atopic dermatitis, hemangiomas, viral disorders, bites and infestations, hypersensitivity disorders, collagen vascular disorders, bacterial and fungal infections, psoriasis, contact dermatitis, and much more. Recognize a wide range of pediatric diseases thanks to a completely revised image library with over 370 new clinical images - more than 1,000 in all.

Published
2011

45. Dermatology

Author

Bolognia, Jean L., Jorizzo, Joseph L., Rapini, Ronald P., Bolognia, Jean L., Jorizzo, Joseph L., and Rapini, Ronald P.

Subjects
Skin--Diseases, Dermatology
Abstract

This definitive reference provides easy access to essential and authoritative clinical guidance on the full range of dermatologic entities encountered in today's practice. It delivers more comprehensive coverage of clinical adult and pediatric dermatology, drug therapy, dermatologic surgery, and pathology than you will find in any other single text. Thousands of helpful illustrations equip you with the visual guidance you need to arrive at confident diagnoses.Discusses pathologic entities in proportion to their incidence, enabling you to focus on the likeliest diagnoses for a given set of symptoms.Includes only the'need-to-know'basic science information and key references, so you have just the right amount of detail on every subject.Presents hundreds of full-color photographs depicting every type of skin disorder, along with a wealth of diagrams that clarify complex concepts and numerous algorithms that expedite decision making. Presents more'high-yield'information in restructured chapters, as well as expanded coverage of rarities - now displayed in table format - without increasing the extent of the book. Includes additional images covering more conditions, for enhanced reference power.

Published
2008

46. Urologic Surgical Pathology

Author

Cheng, Liang, Bostwick, David G., Cheng, Liang, and Bostwick, David G.

Subjects
Pathology, Surgical, Genitourinary organs--Surgery
Abstract

Completely revised with practical guidance in daily urological pathology sign-out and the latest recommended diagnostic approaches, the new edition of this comprehensive reference equips you to accurately diagnose specimens of the entire urinary tract and male reproductive system plus the adrenal glands. It begins with a look at normal anatomy and histology for each organ system...followed by discussions of the pathology of congenital anomalies, inflammations, non-neoplastic diseases and neoplasia. An emphasis on clinicopathologic and radiographic-pathologic correlations makes this a true diagnostic decision-making guide. A consistent format enables you to locate critical information quickly, and morethan 1500 high-quality illustrations - most in full color - make diagnosis even easier. And now, as an Expert Consult title, this reference includes access to a companion web site offering this unparalleled guidance where and when you need it!Presents the practice-proven experience of today's authorities to enable you to diagnose with confidence.Limits coverage of general mechanisms of disease and anatomy to the most relevant information needed to fully comprehend the clinical picture.Includes boxed lists of types and causes of diseases, differential diagnosis, characteristic features of diseases, complications, classifications, and staging that help you quickly locate the specific information you need.Includes access to a companion web site offering the complete contents of the book-fully searchable-for rapid consultation from anyplace with an Internet connection.Features a downloadable Online Image Collection that you can use to enhance your presentations. Presents two brand-new chapters covering urinary cytology and fine needle aspiration to keep you up to date.Covers newly described entities and application of ancillary study for precise diagnosis.Features integration of new molecular techniques and immunohistochemical analysis for differential diagnosis. Equips you with the latest recommended diagnostic approaches help you make the most informed decisions.Provides you with a critical review of the current classifications of cancer and disease.Features more than 1500 high-quality illustrations-in full color-providing a complete visual perspective of the conditions encountered in pathology.

Published
2008

47. Differential Diagnosis for the Dermatologist

Author

Scott Jackson, Lee T. Nesbitt, Scott Jackson, and Lee T. Nesbitt

Subjects
Diagnosis, Differential, Diagnosis, Differential--Encyclopedias, Skin--Diseases--Diagnosis--Encyclopedias
Abstract

Tis book originated as a small reference manual that I created to serve as an educational supplement for the dermatology residents a-t Loui siana State University Health Sciences Center. Deeming the compiled information to be useful for all dermatologists, I decided to expand the text and publish it. Every major category of the patient evaluation, from the chief complaint to the diagnosis, is addressed with regard to the dermatological diferential diagnosis. Te establishment of a precise diferential diagnosis for a gi- ven cu taneous problem is the fundamental challenge that the dermatologist faces with every patient. Tis unique exercise is very intellectual; in a short period of time the clinician must select from a list of perhaps several hundred diseases a few possibilities that match the clinic-al pre sentation. Tis is performed while also negotiating the patient - interac tion, examining the patient, and beginning to formulate a pla- n of ac tion. Profciency in the formulation of a diferential diagnosis that is brief and simultaneously thorough allows for consideration of- all pos sibilities, proper evaluation, and, hopefully, rapid diagnosis. We hope to provide the target readers (dermatologists and dermatologists- -in-train ing) with some assistance in carrying out this frequently complicated task. For the confrontation with an atypical presentation of a common disease or the classic presentation of an uncommon disease, the reader will hopefully fnd this book very useful.

Published
2008

48. Human Malformations and Related Anomalies

Author

Roger E. Stevenson, Judith G. Hall, Roger E. Stevenson, and Judith G. Hall

Subjects
Medical genetics, Abnormalities, Human
Abstract

This widely acclaimed reference work gives a comprehensive survey of all significant human malformations and related anomalies from the perspective of the clinician. The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. When known, the molecular or other pathogenetic basis for the malformation is given. Most anomalies are illustrated by photographs or drawings. Specific malformations are linked to syndromes through the extensive use of differential diagnosis tables. Over a decade has passed since the first edition of this book was published, and the revised edition fully incorporates the advances made in the field during the intervening years.. It reflects new understanding of human developmental biology that has emerged from molecular, cytogenetic, and biochemical studies; new observations by clinicians as well as enhanced diagnostic and prevention capacities; and more accurate and comprehensive epidemiology. By condensing much of the information presented in the first volume of the previous edition, and exercising rigorous editorial control, Drs. Stevenson and Hall and their contributors have managed to update the book while reducing its size to that of a single volume. All clinicians and scientists interested in birth defects, including pediatricians, geneticists, genetic counselors, obstetricians, and pediatric pathologists, will find this book to be an invaluable source of information.

Published
2006

49. A Clinician's Guide to Dermatologic Differential Diagnosis, Volume 1 : The Text

Author

Schneiderman, Paul I., Grossman, Marc E., Schneiderman, Paul I., and Grossman, Marc E.

Subjects
Diagnosis, Differential, Skin--Diseases--Diagnosis
Abstract

One of the most ambitious texts to be published in dermatology for some years, this is a comprehensive guide to dermatologic conditions, classified by physical findings, and referenced to current literature. There are 284 entries, arranged alphabetically. The art and science of clinical dermatology rest with the ability of the clinician to formulate an appropriate differential diagnosis by defining and synthesizing the physical findings; this book serves as a guide in that quest, and will be both educational and stimulating to dermatologists at all levels of training and practice.

Published
2006

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