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Bartsocas-Papas syndrome (BPS) is a rare autosomal recessive disorder characterized by popliteal pterygia, syndactyly, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and genital malformations. Most of the BPS cases reported to date are fatal either in the prenatal or neonatal period. Causative genetic defects of BPS were mapped on the RIPK4 gene encoding receptor-interacting serine/threonine kinase 4, which is critical for epidermal differentiation and development. RIPK4 variants are associated with a wide range of clinical features ranging from milder ectodermal dysplasia to severe BPS. Here, we evaluated a consanguineous Turkish family, who had two pregnancies with severe multiple malformations compatible with BPS phenotype. In order to identify the underlying genetic defect, direct sequencing of the coding region and exon-intron boundaries of RIPK4 was carried out. A homozygous transversion (c.481G>C) that leads to the substitution of a conserved aspartic acid to histidine (p.Asp161His) in the kinase domain of the protein was detected. Pathogenicity predictions, molecular modeling, and cell-based functional assays showed that Asp161 residue is required for the kinase activity of the protein, which indicates that the identified variant is responsible for the severe BPS phenotype in the family., (© 2021 Wiley Periodicals LLC.)

Brittle cornea syndrome (BCS) is a rare autosomal recessive disorder characterized by corneal thinning and fragility, leading to corneal rupture, the main hallmark of this disorder. Non-ocular symptoms include not only hearing loss but also signs of connective tissue fragility, placing it in the Ehlers-Danlos syndrome (EDS) spectrum. It is caused by biallelic pathogenic variants in ZNF469 or PRDM5, which presumably encode transcription factors for extracellular matrix components. We report the clinical and molecular features of nine novel BCS families, four of which harbor variants in ZNF469 and five in PRDM5. We also performed a genotype- and phenotype-oriented literature overview of all (n = 85) reported patients with ZNF469 (n = 53) and PRDM5 (n = 32) variants. Musculoskeletal findings may be the main reason for referral and often raise suspicion of another heritable connective tissue disorder, such as kyphoscoliotic EDS, osteogenesis imperfecta, or Marfan syndrome, especially when a corneal rupture has not yet occurred. Our findings highlight the multisystemic nature of BCS and validate its inclusion in the EDS classification. Importantly, gene panels for heritable connective tissue disorders should include ZNF469 and PRDM5 to allow for timely diagnosis and appropriate preventive measures for this rare condition., (© 2021 Wiley Periodicals LLC.)

Activating variants in the platelet-derived growth factor receptor β gene (PDGFRB) have been associated with Kosaki overgrowth syndrome, infantile myofibromatosis, and Penttinen premature aging syndrome. A recently described phenotype with fusiform aneurysm has been associated with mosaic PDGFRB c.1685A > G p.(Tyr562Cys) variant. Few reports however have examined the vascular phenotypes and mosaic effects of PDGFRB variants. We describe clinical characteristics of two patients with a recurrent mosaic PDGFRB p.(Tyr562Cys) variant identified via next-generation sequencing-based genetic testing. We observed intracranial fusiform aneurysm in one patient and found an additional eight patients with aneurysms and phenotypes associated with PDGFRB-activating variants through literature search. The conditions caused by PDGFRB-activating variants share overlapping features including overgrowth, premature aged skin, and vascular malformations including aneurysms. Aneurysms are progressive and can result in morbidities and mortalities in the absence of successful intervention. Germline and/or somatic testing for PDGFRB gene should be obtained when PDGFRB activating variant-related phenotypes are present. Whole-body imaging of the arterial tree and echocardiography are recommended after diagnosis. Repeating the imaging study within a 6- to 12-month period after detection is reasonable. Finally, further evaluation for the effectiveness and safety profile of kinase inhibitors in this patient population is warranted., (© 2021 Wiley Periodicals LLC.)

A novel patient cluster in antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) may be identified in Japan. We performed multiple correspondence and cluster analysis regarding 427 clinically diagnosed AAV patients excluding eosinophilic granulomatosis with polyangiitis. Model 1 included the ANCA phenotype, items of the Birmingham Vasculitis Activity Score, and interstitial lung disease; model 2 included serum creatinine (s-Cr) and C-reactive protein (CRP) levels with model 1 components. In seven clusters determined in model 1, the ANCA-negative (n = 8) and proteinase 3-ANCA-positive (n = 41) groups emerged as two distinct clusters. The other five myeloperoxidase-ANCA-positive clusters were characterized by ear, nose, and throat (ENT) (n = 47); cutaneous (n = 36); renal (n = 256), non-renal (n = 33); and both ENT and cutaneous symptoms (n = 6). Four clusters in model 2 were characterized by myeloperoxidase-ANCA negativity (n = 42), without s-Cr elevation (< 1.3 mg/dL) (n = 157), s-Cr elevation (≥ 1.3 mg/dL) with high CRP (> 10 mg/dL) (n = 71), or s-Cr elevation (≥ 1.3 mg/dL) without high CRP (≤ 10 mg/dL) (n = 157). Overall, renal, and relapse-free survival rates were significantly different across the four clusters in model 2. ENT, cutaneous, and renal symptoms may be useful in characterization of Japanese AAV patients with myeloperoxidase-ANCA. The combination of s-Cr and CRP levels may be predictive of prognosis.

Background: Acne is not only a skin condition but also a cardinal component of many systemic diseases or syndromes. This study was aimed to investigate the prevalence of acne in reproductive-age women in Sichuan province, China, and to evaluate acne as a skin problem alone or a symptom of gynecological/endocrinological disease., Methods: From October 2008 to September 2009, 1043 reproductive-age women from 19 to 45 years of age from seven communities of three districts in Sichuan province completed a standardized questionnaire and a physical examination. Acne was classified using the Pillsbury scale, and hirsutism was assessed using a modified Ferriman-Gallwey method. Diagnosis of polycystic ovary syndrome (PCOS) was based on the 2003 Rotterdam criteria. Some endocrine and metabolic markers were detected for the women diagnosed with PCOS related to acne and the control group., Results: The prevalence of acne was 32.5%, and the highest prevalence (9.6%) was seen in the 19-24-year-old age group. Prevalence among women eating dessert frequently, exercising seldom, or among sedentary workers was significantly higher in the acne group (14.1%, 55.6%, and 51.3%, respectively) than in the nonacne group (10.8%, 45.7%, and 35.5%; all P<0.05). The prevalence of oligomenorrhea and hirsutism in the acne group (17.6%, 24.7%) was significantly higher than in the nonacne group (8.6%, 15.1%; both P<0.05). Among the participants with acne, 64.3% had acne alone, 18.3% were diagnosed with hyperandrogenism, and 17.4% were diagnosed with PCOS. The level of serum androstendione in the group of PCOS (10.98±3.12 nmol/L) was significantly higher than that in the control group (8.85±3.09nmol/L) (P<0.05)., Conclusion: When reproductive-age women with acne are encountered in gynecology-endocrinology or dermatology clinics, physicians should consider evaluating them from PCOS, hyperandrogenism, or acne alone.

Objective: There are limited reports studying on congenital cutaneous anomalies in newborns, particularly in Turkey. Some of congenital cutaneous anomalies serve as an important clue for accompanying syndromes or other medical conditions. This study aimed to determine the prevalence of congenital cutaneous anomalies in newborns and to discuss their clinical significance with a brief review of literature., Study Design: A total of 1,000 newborns were examined by a dermatologist in a hospital-based, cross-sectional, prospective study between October 2011 and April 2012., Results: We observed 11 different congenital cutaneous anomalies in 48 newborns of 1,000 (4.8%). The most commonly seen anomalies were sacral dimple, accessory nipple, acrochordon, hypospadias, open spinal dysraphism, and accessory tragus. None of the newborns with cutaneous anomalies had any association., Conclusions: Although congenital cutaneous anomalies are rare in newborns, clinicians should be aware of them as they may be in association with syndromes and other medical conditions. It is also important to give appropriately provided information to avoid parents concerns., (Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.)

Introduction: Vascular anomalies, which are erroneously categorized under the term angiomas, are a highly heterogeneous group of lesions that are poorly understood and affect a mean of 5 to 10 % of children. The fortuitous discovery of propranolol's efficacy in one of these entities has made them a topical issue., Objectives: The paper's main objective is to inform family doctors of the various types of vascular anomalies, clarify their classification, and provide a common terminology. Its secondary objective is to provide a decision tree that enables primary care doctors to avoid diagnostic pitfalls, successfully detect cases, and optimize management., Methods: Systematic review., Conclusions: According to a recent study, 71,3 % of publications use the term hemangioma erroneously, regardless of the authors' field. The key for family doctors is to use one international classification only, that of the International Society for the Study of Vascular Anomalies (ISSVA), in order to facilitate management and comprehension between the different healthcare levels. The diagnosis of vascular anomalies is clinical in 90 % of cases, so all family doctors can, whilst using a decision tree, diagnose a vascular anomaly and refer only those that are complex for specialist care. The most common vascular anomaly is infantile hemangioma in infants, which spontaneously regresses around the age of 5-7 years in 90 % of cases. Watchful waiting and regular follow-up suffice, therefore, in such settings.

Neural tube dysraphisms are congenital anomalies resulting from impaired formation of structures along the craniospinal axis during central nervous system development. When these malformations are large or lack a skin covering, they are easily recognized, whereas smaller or skin-covered malformations may not be readily apparent. Due to the intimate embryologic origin of the skin and nervous system, these occult malformations are often heralded by associated cutaneous abnormalities. In this article, the common clinical presentations and cutaneous markers of craniospinal dysraphism are reviewed, along with the recommended imaging modalities., (© 2014 Wiley Periodicals, Inc.)

Twelve previously unreported cases of nevus comedonicus are presented. Characteristic closely grouped dilated follicular openings with horny plugs that mimic comedones led to the diagnosis. One patient had nevus comedonicus syndrome and there were cases with atypical locations and unusual complications of this condition. We also highlight clinical associations and therapeutic options., (© 2014 Wiley Periodicals, Inc.)

Reports of congenital diseases in Africa are scanty, probably because of their rarity, the lack of knowledge among health workers, and the difficult political and social situation in different African countries. We describe here the spectrum of genetic and rare congenital cutaneous conditions encountered at the Italian Dermatological Center of Ayder referral hospital of Mekele, Ethiopia, over a 3-year period. All patients attending the Italian Dermatological Center were registered in a database, and medical records of genetic and congenital disorders diagnosed from January 2008 to December 2010 were retrospectively analyzed. Over the total, 24 different genetic and congenital disorders affecting 122 individuals (0.4% of the total case load) were observed. In our case series, we did not report any patient affected by albinism, in contrast with literature from other African countries. To our knowledge, this is the first report from northern Ethiopia. A brief update on the commonest disorders is included., (© 2014 The International Society of Dermatology.)

Background: Mutation in the SURF1 is one of the most common nuclear mutations associated with Leigh syndrome and cytochrome c oxidase deficiency. This study aims to describe the phenotypic and imaging features in four patients with Leigh syndrome and novel SURF1 mutation., Methods: The study included four patients with Leigh syndrome and SURF1 mutations identified from a cohort of 25 children with Leigh syndrome seen over a period of six years (2006-2012). All the patients underwent a detailed neurological assessment, muscle biopsy, and sequencing of the complete mitochondrial genome and SURF1., Results: Three patients had classical presentation of Leigh syndrome. The fourth patient had a later age of onset with ataxia as the presenting manifestation and a stable course. Hypertrichosis, facial dysmorphism and hypopigmentation were the additional phenotypic features noted. On magnetic resonance imaging all patients had brainstem and cerebellar involvement and two had basal ganglia involvement in addition. The bilateral symmetrical hypertrophic olivary degeneration in these patients was striking. The SURF1 analysis identified previously unreported mutations in all the patients. On follow-up three patients expired and one had a stable course., Conclusions: Patients with Leigh syndrome and SURF1 mutation often have skin and hair abnormalities. Bilateral symmetrical hypertrophic olivary degeneration was a consistent finding on magnetic resonance imaging in these patients., (Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.)

The pattern of congenital oral and craniofacial anomalies (CFAs) in the Kenyan population remains unknown. The objective of this study was to describe the pattern of occurrence of CFAs at two hospitals in Nairobi. A descriptive cross-sectional study at the Kenyatta National Hospital and Pumwani Maternity Hospital was carried out from November 2006 to March 2007. Mothers who delivered at the hospitals consented to an interview and physical examination of their babies within 48 h of delivery. The anomalies were classified for type and magnitude. Data were analysed to determine the association of these anomalies with ages of the mothers, gender, weight, birth order, mode of delivery and birth status of the babies. During the study period, 7989 babies were born. The CFAs manifested in 1.8% of the total births and were more common in female (1.4%) than in male (1.0%) live births. 12.8% of stillbirths had CFAs, with lesions manifesting more in males (16.7%) than in females (6.9%). The commonest CFA was preauricular sinus (4.3/1000) followed by hydrocephalus (1.9/1000) then preauricular tags and cleft lip and palate (1.5/1000 and 1.3/1000 total births, respectively)., (Copyright © 2012 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.)

Purpose of Review: Many recent studies have revealed the key roles played by Th1/Th2 cell dysregulation, IgE production, mast cell hyperactivity, and dendritic cell signaling in the pathogenesis of atopic dermatitis. Accordingly, current therapy has been largely directed towards ameliorating Th2-mediated inflammation and/or pruritus. We will review here emerging evidence that the inflammation in atopic dermatitis results from inherited and acquired insults to the barrier and the therapeutic implications of this new paradigm., Recent Findings: Recent molecular genetic studies have shown a strong association between mutations in FILAGGRIN and atopic dermatitis, particularly in Northern Europeans. But additional acquired stressors to the barrier are required to initiate inflammation. Sustained hapten access through a defective barrier stimulates a Th1 --> Th2 shift in immunophenotype, which in turn further aggravates the barrier. Secondary Staphylococcus aureus colonization not only amplifies inflammation but also further stresses the barrier in atopic dermatitis., Summary: These results suggest a new 'outside-to-inside, back to outside' paradigm for the pathogenesis of atopic dermatitis. This new concept is providing impetus for the development of new categories of 'barrier repair' therapy.

Congenital muscular dystrophy (CMD) is a clinically and genetically heterogeneous group of muscle disorders, presenting at birth or early infancy with hypotonia, muscle weakness, joint contractures, and dystrophic changes in the muscles. Merosin-deficient CMD (MDCMD) is rare in Asian populations, but more common in Caucasians, comprising about 50% of CMDs. We report, for the first time in Korea, eight patients with merosin-deficient CMD, confirmed by immunohistochemical staining of muscle or skin samples. We also describe their wide spectrum of clinical features and neuroimaging findings. Among 35 patients diagnosed as CMD, almost 23% of them were proved to have MDCMD with typical phenotypic presentation. We infer that prevalence of MDCMD in Korea may not be as low as expected. One of the patients was diagnosed by skin biopsy, which is good alternative for diagnosis of MDCMD.

Cardio-facio-cutaneous (CFC) syndrome is a multiple congenital anomaly/mental retardation syndrome characterized by heart defects, a distinctive facial appearance, ectodermal abnormalities and mental retardation. Clinically, it overlaps with both Noonan syndrome and Costello syndrome, which are caused by mutations in two genes, PTPN11 and HRAS, respectively. Recently, we identified mutations in KRAS and BRAF in 19 of 43 individuals with CFC syndrome, suggesting that dysregulation of the RAS/RAF/MEK/ERK pathway is a molecular basis for CFC syndrome. The purpose of this study was to perform comprehensive mutation analysis in 56 patients with CFC syndrome and to investigate genotype-phenotype correlation. We analyzed KRAS, BRAF, and MAP2K1/2 (MEK1/2) in 13 new CFC patients and identified five BRAF and one MAP2K1 mutations in nine patients. We detected one MAP2K1 mutation in three patients and four new MAP2K2 mutations in four patients out of 24 patients without KRAS or BRAF mutations in the previous study [Niihori et al., 2006]. No mutations were identified in MAPK3/1 (ERK1/2) in 21 patients without any mutations. In total, 35 of 56 (62.5%) patients with CFC syndrome had mutations (3 in KRAS, 24 in BRAF, and 8 in MAP2K1/2). No significant differences in clinical manifestations were found among 3 KRAS-positive patients, 16 BRAF-positive patients, and 6 MAP2K1/2-positive patients. Wrinkled palms and soles, hyperpigmentation and joint hyperextension, which have been commonly reported in Costello syndrome but not in CFC syndrome, were observed in 30-40% of the mutation-positive CFC patients, suggesting a significant clinical overlap between these two syndromes., (Copyright 2007 Wiley-Liss, Inc.)

Background: A total of 620 healthy term neonates, randomly selected among babies born at the San Paolo Hospital in Milan (Italy), were examined to study the relationship between birthmarks and transient cutaneous lesions in newborns of different ethnic groups., Methods: Information on sociodemographic factors and on physiopathological variables of the pregnancy was collected. Multiple logistic analyses were performed to assess associations between diagnosed skin lesions and various factors. Odds ratios (OR) as a measure of association and the corresponding 95% confidence intervals were estimated., Results: A positive association was found between reduced hypoderm and pregnancy illness (OR = 2.78), hypertrophy genitalia and use of drugs (OR = 1.86) and illnesses in pregnancy (OR = 1.61). Hyperpigmentation in the genital area and Mongolian spot showed significant positive association with geographical area of origin, being systematically more frequent in non-European neonates, while for melanocytic congenital nevi a positive association was observed only for Asiatic newborns (OR = 4.67); salmon patch on the nape showed a significant OR of 1.81 among mothers aged > or = 35., Conclusions: Significant associations between some sociodemographic factors and cutaneous lesions of the newborn and anamnestic data related to the pregnancy were found. Dermatologic conditions are common in the newborns and may justify dermatologic examination., (2007 S. Karger AG, Basel)

Lower levels of long-chain polyunsaturated fatty acids, particularly omega-3 fatty acids, in blood have repeatedly been associated with a variety of behavioral disorders including attention-deficit/hyperactivity disorder (ADHD). The exact nature of this relationship is not yet clear. We have studied children with ADHD who exhibited skin and thirst symptoms classically associated with essential fatty acid (EFA) deficiency, altered plasma and red blood cell fatty acid profiles, and dietary intake patterns that do not differ significantly from controls. This led us to focus on a potential metabolic insufficiency as the cause for the altered fatty acid phenotype. Here we review previous work and present new data expanding our observations into the young adult population. The frequency of thirst and skin symptoms was greater in newly diagnosed individuals with ADHD (n = 35) versus control individuals without behavioral problems (n = 112) drawn from the Purdue student population. A follow up case-control study with participants willing to provide a blood sample, a urine sample, a questionnaire about their general health, and dietary intake records was conducted with balancing based on gender, age, body mass index, smoking and ethnicity. A number of biochemical measures were analyzed including status markers for several nutrients and antioxidants, markers of oxidative stress, inflammation markers, and fatty acid profiles in the blood. The proportion of omega-3 fatty acids was found to be significantly lower in plasma phospholipids and erythrocytes in the ADHD group versus controls whereas saturated fatty acid proportions were higher. Intake of saturated fat was 30% higher in the ADHD group, but intake of all other nutrients was not different. Surprisingly, no evidence of elevated oxidative stress was found based on analysis of blood and urine samples. Indeed, serum ferritin, magnesium, and ascorbate concentrations were higher in the ADHD group, but iron, zinc, and vitamin B6 were not different. Our brief survey of biochemical and nutritional parameters did not give us any insight into the etiology of lower omega-3 fatty acids, but considering the consistency of the observation in multiple ADHD populations continued research in this field is encouraged.

Congenital malformations are among the major causes of perinatal mortality and morbidity at present. Research into the ethnic diversity of congenital malformations can form a basis both for aetiological studies and for health care advice and planning. This study compared the overall prevalence of congenital malformations, the prevalence in different organ systems and of several specific malformations between different maternal ethnic groups in the Netherlands using a 5-year national birth cohort (1996-2000) containing 881 800 births. Maternal ethnic groups considered were Dutch; Mediterranean (Moroccan/Turkish); other European; Black; Hindu and Asian. Mediterranean women had a 20% higher risk of having a child with a congenital malformation than Dutch women (age-adjusted OR = 1.21 [95% CI 1.16, 1.27]). They showed an increased risk of malformations in several organ systems such as the central nervous system and sensory organs, the urogenital system and skin and abdominal wall. Further, they had an increased risk of the group of chromosomal malformations/multiple malformations/syndromes. For the specific group of multiple malformations the maternal age adjusted OR was 1.80 [95% CI 1.47, 2.20]. The Black group showed a significantly increased risk of skeletal and muscular malformations (age adjusted OR = 1.76 [95% CI 1.53, 2.02]) with a sixfold increased risk of polydactyly compared with the Dutch group. For Mediterranean women, the largest and fastest growing group of immigrants in the Netherlands, this study demonstrated an increased risk of congenital malformations.

Background: Neonates with occult spinal dysraphisms (OSDs) may not present any clinical manifestations, but may be associated to cutaneous stigmas that indicate dysraphism. Association of minor cutaneous stigmas (discreet skin lesions, most of which are not assessed) with OSD was investigated in this study, as well as the use of ultrasonography (US) as a screening method for those patients., Methods: Two thousand ten neonates were evaluated trough active search. Both the pediatrician and the neurosurgeon performed the search for the presence of cutaneous stigmas on the midline of the dorsal region. For all of them, the gestational age, type of delivery, gender, ethnicity, age of mother, and whether it was a high-risk gestation were recorded. Patients with skin lesions comprised the case group. For each case, another neonate of the same gender, gestational age, and ethnicity was selected as control. Both groups were evaluated with respect to personal, social, and medical information. Spinal US was performed in all case and control patients-if altered or inconclusive, it was complemented with magnetic resonance imaging (MRI)., Results: Of the 2010 patients, 144 presented cutaneous stigmas. Of these, 8 had alterations to US (5.5%) and 6 to MRI. There were no alterations to US in the control group. The most frequent lesions were tufts of hair and dimples; through US, the most frequent findings were dermal sinuses., Conclusions: The so-called minor skin lesions were not markers of OSD in the evaluated population. However, in 4 patients, US was decisive for the surgical decision. From the statistical point of view, there is no indication for complementary examinations in patients with minor cutaneous stigmas. However, because of the feasibility, simplicity, and low cost of the spinal US, the examination is justified in the benefits of early diagnosis, regardless of the need of immediate surgical treatment.

Objective: To estimate whether women delivering infants with mild malformations are at increased risk to have a subsequent infant with a mild malformation., Methods: Both severe and mild malformations detected at birth were cataloged prospectively for 33,701 women with two consecutive singleton births of infants weighing 500 g or more at a tertiary care hospital. Records from a total of 67,402 infants were analyzed from January 1, 1988, through December 31, 2000. Mild malformations and dysplasias were defined to include skin lesions (eg, café au lait spots, nevi, and hemangiomas), extra nipples, and abnormalities involving digits. Pearson and McNemar chi(2) statistics and analysis of variance were used for statistical analysis. Estimation of recurrence risks was accomplished using standard methods for rates and proportions., Results: Of the study women, 2.7% delivered infants with mild malformations in their index pregnancy. Mild malformations recurred in 7% of women whose index infant had a mild malformation (2.7% versus 7%, P <.001). Mild malformations involving the skin or digits also significantly increased in the next delivery (2% versus 5%, P <.001; 0.5% versus 8%, P <.001; recurrence of skin and digit anomalies, respectively)., Conclusion: Women delivering infants with mild malformations involving the skin and digits of the infant are at increased risk for recurrence during their next pregnancy.

Objective: Accessory auricular anomaly is a small elevation of skin containing a bar of elastic cartilage localized most commonly just anterior to the tragus or ascending crus of the helix. The anomaly may exist isolated or may be associated with other congenital anomalies of the first arch. The purpose in this study is to detect prevalence of accessory auricle in Turkey and find out whether it is associated with other craniofacial anomalies or hearing loss., Methods: The study was performed on 850 children from the age of 7 to 9 during a screening program in primary schools. Complete otolaryngologic examination and acoustic reflectometry measurements were performed on all the children. Full physical examination, tympanometric and audiometric evaluation and EEG measurements were added to the cases with accessory auricle anomaly., Results: Among 850 children examined, four had accessory auricle anomaly and prevalence of the anomaly was calculated as 0.47% (95% confidence interval (CI), 0.13-1.20%). Children were developmentally normal, and no other congenital craniofacial or systemic anomaly was detected in any of the cases. Further, tympanometric, audiometric evaluations and EEG tests were in normal limits., Conclusions: In this study, the prevalence rate of the condition was calculated as 0.47%. Although one study from China reported this prevalence as 0.22%, the difference between the reported prevalances was not statistically significant. Further, although external ear anomalies may present together with cranifacial anomalies and neurologic disorders like epilepsy, neuromotor retardation and EEG disorders, in our cases, mental and motor development was normal and epilepsy history or abnormal EEG patterns do not exist. On the other hand, no hearing loss was found to be associated with accessory auricles.

Objective: To determine the prevalence, distribution, and histopathological conditions of skin abnormalities in neurofibromatosis 2 (NF2)., Design: Case series., Setting: Hospital neurology department., Patients: Consecutive sample of 88 patients with NF2 referred through workshops and publications, genetic counseling, and referral from neurosurgical departments; 81 patients met the National Institutes of Health, Bethesda, Md, NF2 diagnostic criteria and the diagnosis was established by mutation or segregation analyses in 7 patients., Main Outcome Measures: Prevalence, distribution, and type of skin abnormalities; histopathological features of 29 skin tumors selected primarily for medical indications., Results: Fifty-two patients (59.1%) had 458 skin tumors, which were the first presenting sign in 27.3% of patients and usually appeared as flat dysplastic tumors or subcutaneous spherical nodular tumors of the peripheral nerves, on the limbs and trunk. Although 29 patients (33.0%) had café au lait spots, only 2 patients had as many as 6 spots. compared with patients with milder disease, patients with more severe disease had a significantly greater prevalence of skin tumors (24.0% and 71.0%, P < .001), more than 10 skin tumors (0.0% and 27.4%, P = .004), flat dysplastic skin tumors (8.0% and 54.8%, P < .001), and subcutaneous spherical nodular tumors (24.0% and 58.1%, P = .004). The histologically analyzed tumors were predominantly schwannomas, but 5 were neurofibromas and 2 were mixed tumors., Conclusions: The prevalence of some skin tumor types in NF2 is high and varies with disease severity, and schwannomas predominate in sampled tumors. The occurrence of neurofibromas is surprising, but could be explained by an interaction between neurofibromin and the NF2 gene product in regulating the ras proto-oncogene.

Cutaneous alterations are common in neonates. Nevertheless, no reliable studies exist to characterize the type and frequency of skin diseases in Mexican newborns. We carried out a prospective study for 6 month on 1,000 children to analyze cutaneous lesions present during the neonatal period in our population. Of these children, 790 (78%) were neonates admitted to the well-baby nursery, and 220 (22%) were in the sick-baby nursery. Comparison was made between the two groups. It was found that all the newborns (100%) from both groups presented from 2 to 10 different cutaneous lesion. A wide variety of skin diseases were found, but most were of a transitory nature. Birthmarks were less common and malformations even more so. By means of the X2 method, there was no statistically-significant difference between the two groups (p > 0.1).