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INTRODUCCIÓN: Las dermatosis en el área del pañal son frecuentes en los lactantes. Las entidades pueden ser de origen inflamatorio, infeccioso, metabólico, autoinmune, tumoral, traumático o por abuso sexual. El reconocimiento de estas entidades por el médico de primer contacto es fundamental para el diagnóstico correcto. CASO CLÍNICO: Lactante de sexo femenino de 14 meses de edad, quién presentaba una dermatosis en el área del pañal desde los 9 meses de edad, tratada con múltiples medicamentos, sin presentar mejoría. Fue referida a nuestro servicio por probable abuso sexual con sospecha de agresor intradomiciliario, pues presentaba una dermatosis en región de la vulva y perianal constituida por úlceras eritematosas de formas irregulares, mal definidas y friables. Así mismo, presentaba fisuras en pliegues axilares e inguinales, adenomegalias y petequias. Nuestro diagnóstico presuntivo fue Histiocitosis de Células de Langerhans y se corroboró por biopsia de piel, estudios de laboratorio e imagen, descartando el abuso sexual. Recibió esteroide y vinblastina de acuerdo al tratamiento establecido por la Sociedad del Histiocito, con resultados favorables. CONCLUSIÓN: La Histiocitosis de células de Langerhans con involucro cutáneo afecta comúnmente el área del pañal. Aquellas lesiones ulceradas y progresivas que no respondan a tratamientos convencionales deben ser estudiadas para descartar otras patologías. El abuso sexual es un diagnóstico que debe fundamentarse antes de iniciar una acción legal, ya que provoca daños en la familia.

A 7-year-old girl presented with a 2-year history of recurrent blisters on the skin and oral mucosa. The patient was otherwise healthy, and her family history was unremarkable for any dermatologic or other medical disease. Examination revealed multiple tense vesicles, milia, and atrophic scars present over the extensor surface of the extremities and erosions on the oral mucosa (Figure 1). A skin biopsy established a pauci-inflammatory subepidermal blister (Figure 2a). Direct immunofluorescence (DIF) evidenced the linear deposition of immunoglobulin G (IgG), immunoglobulin M (IgM), and κ and λ chains at the dermal-epithelial junction (DEJ). Indirect immunofluorescence (IIF), using the salt-split technique, established anti-epithelial antibodies on the dermal side (Figure 2b). An enzyme-linked immunosorbent assay (ELISA) was positive for Collagen Type VII (COL7) antibodies. A diagnosis of epidermolysis bullosa acquisita (EBA) was made, and treatment with azathioprine and deflazacort was administered for 8 months with progressive lessening of her symptomatology and complete clinical response at 2-year follow-up. (

The prognosis of IgA vasculitis (also known as Henoch-Schönlein purpura) is determined by renal or other organ involvement. We conducted a retrospective study to identify the initial features of 106 children with IgA vasculitis and their association with unfavorable outcomes. Location of purpura above the waist and an altered urinalysis at diagnosis predicted a more aggressive course of disease.

Paraneoplastic pemphigus is a rare and severe autoimmune blistering disease characterized by a recalcitrant and severe mucositis, and polymorphic cutaneous lesions, associated with benign and malignant neoplasms. Paraneoplastic pemphigus is caused by production of autoantibodies against various epidermal proteins involved in cell adhesion. Bronchiolitis obliterans (BO) is one of the leading causes of mortality in these patients. Recent advances have associated the presence of anti-epiplakin antibodies with the development of BO in adult patients. Here we describe the first pediatric patient in whom the association of anti-epiplakin antibodies and BO have been reported so far.

The genus

Menkes disease (MD) is a rare X-linked recessive neurodegenerative disorder caused by mutations in the ATP7A gene, with a high mortality rate within the first 3 years of life. It typically affects males and is characterized by impaired copper distribution and malfunction of several copper-dependent enzymes. Patients develop progressive muscle hypotonia associated with neurological damage and hair shaft dysplasia – particularly pili torti. Pili torti is usually very subtle in the first 3 months of life and gradually increases during the first year. Light microscopy examination in search for pili torti requires the observation of more than 50 hair shafts. In contrast, trichoscopy with a hand-held dermatoscope allows to easily identify the hair shaft defect. We report a case of a Hispanic male infant with MD in whom we show that trichoscopy is superior to hair light microscopy in revealing pili torti.

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and aggressive malignancy of the skin and hematopoietic system. There are few pediatric cases reported in the literature. Management of primary cutaneous BPDCN is challenging because, despite an apparently indolent clinical presentation, rapid dissemination with high mortality can occur. We describe a child with isolated cutaneous involvement who had a good response to chemotherapy as first-line treatment of BPDCN.

Background Pigmentary mosaicism constitutes a heterogeneous group of skin pigmentation alterations associated with multisystem involvement. The aim of this study was to establish a complete cytogenetic and molecular characterization of PM patients, emphasizing on searching for possible low chromosomal mosaicism and on establishing an accurate genotype-phenotype correlation. Results A total of 73 patients were included (3 months to 18 years of age), 52% male and 48% female. Observed in 69 (95%) patients, the most frequent pattern of pigmentation was fine and whorled BL, which was associated with disseminated skin extent in 41 (59%) patients. Central nervous system (84%) alterations were the most frequent observed in the group of patients, followed by the musculoskeletal (53%) and ophthalmologic (27%) alterations. Considering the pattern of pigmentation, no significant differences in association with skin extent or extracutaneous manifestations were detected. Following a strict cytogenetic analysis strategy, screening metaphases from three different tissues (peripheral blood, hyperpigmented and hypopigmented skin) we found that 23/73 patients had chromosomal abnormalities classified as follows: 1) Mosaic with 2 or more different cell lines with structural alterations n = 19; 2) Polyploidy (mosaic) n = 1 and 3) Alterations in all cells in three different tissues n = 3. SNP array, array CGH and FISH were useful for the complete characterization of the chromosomal aberrations, for the detection of microdeletions in patients with normal karyotype but with strong clinical suspicious of chromosomal alteration, and for a better establishment of genotype-phenotype correlation. In 2 patients we found genes associated with some of the extracutaneous manifestations (SHH, MNX1, PPP2R2C). Conclusions This group of 73 patients finely described is the largest series of patients with pigmentary mosaicism reported worldwide. As we showed in this study, the followed analysis strategy allowed the detection of cytogenetic and molecular abnormalities, and made possible the establishment of genotype-phenotype associations in some patients. An important limitation of our study was the analysis of fibroblasts cultures instead of melanocytes and keratinocytes. In some cases the direct molecular DNA analysis of skin biopsy could be another choice.

Temple syndrome (TS14) can be originated by maternal uniparental disomy (UPD(14)mat), paternal deletion, or epimutation, leading to disturbances in 14q32.2 imprinted region. The most frequent phenotypic manifestations are prenatal and postnatal growth failure, hypotonia, developmental delay, small hands/feet, precocious puberty, and truncal obesity. However, the diagnosis can be challenging due to the clinical overlap with other imprinting disorders such as Silver-Russell or Prader-Willi syndromes. Although rare, TS14 has been also reported in patients with concomitant UPD(14)mat and mosaic trisomy 14. In the present report, the clinical and genetic profiles of two new patients with TS14 are described. SNParray and MS-MLPA, allowed the determination of segmental UPD(14)mat and the hypomethylation of MEG3 gene. Additionally, in one of our patients we also observed by cytogenetics a small supernumerary marker chromosome that led to partial trisomy 14 in mosaic. Only few patients with concomitant UPD(14)mat and mosaic partial trisomy 14 have been reported. Our patients share cardinal TS14 phenotypic features that are associated to the genetic abnormalities detected; however, we also observed some clinical features such as fatty liver disease that had not previously been reported as part of this syndrome. The detailed clinical, cytogenetical and molecular description of these two new patients, contributes to a more accurately delineation of this syndrome.

Introduction Hypohidrotic ectodermal dysplasia (HED) is a genetic condition typified by alterations in skin structures including sweat glands, hair, nails, and teeth. Hair findings in HED have been poorly characterized in larger series. Objective To characterize scalp and hair findings of patients with HED clinically and with trichoscopy and light microscopy. Methods A cross-sectional study in 21 pediatric HED patients was performed using available clinical and scalp dermatoscopic images, as well as pulled-hair samples for clinical evaluation, trichoscopic, and light microscopic analyses. Results Seventeen out of 21 patients (81%) were men. Twenty patients had straight hair. Sixteen patients had decreased hair density, 6 of whom had hair loss mainly in the temporal and occipital regions. Fourteen patients had hair whorls. On trichoscopy, we observed: single-hair follicular units (n = 19, 90%), scalp hyperpigmentation (n = 13, 62%), variable diameter of the hair shafts (n = 12, 57%), perifollicular scales (n = 8, 38%), scalp erythema (n = 8, 38%), and short curly pigtail hairs (n = 6, 29%). On light microscopy, findings included: hair shafts with irregular diameter (n = 7, 33%), heterogeneous hair color (n = 6, 29%), trichoptilosis (n = 2, 10%), and pili torti (n = 1, 5%). Conclusions In this series, hair findings in HED were similar to those described in previous studies. However, we describe two new clinical and two trichoscopic findings: decreased hair density mainly in the temporal and occipital regions, oblique upwards occipital hair follicles orientation, angled hairs, and short curly pigtail hairs. These heterogeneous findings may reflect the multiple factors and signaling pathways that can be affected in these syndromes.

Griscelli syndrome type 2 (GS2) features silvery-grey hair, bronzed skin and immunodeficiency.1 The only curative treatment for GS2 is haematopoietic stem cell transplantation (HSCT) which corrects the immune and haematologic defects with persistence of oculocutaneous abnormalities.

Background/objectives Silvery hair syndrome is a rare, autosomal-recessive entity characterized by silvery gray hair, eyebrows, and eyelashes and may be associated or not with immunologic or neurologic alterations. Two main types have been recognized: Chediak-Higashi syndrome and Griscelli syndrome. Hair shaft examination under light microscopy has been a useful tool to differentiate Chediak-Higashi syndrome from Griscelli syndrome, although distribution of melanin varies according to hair color related to ethnicity. The objective was to compare the pattern of melanin in the skin and with the pattern of melanin distribution in the hair shaft. Methods Sixteen patients with silvery hair syndrome were selected (Chediak-Higashi syndrome 5, Griscelli syndrome 11). The distribution of melanin granules in skin and hair shafts was compared and correlated with clinical diagnoses. Results Chediak-Higashi syndrome was characterized by small granules of melanin uniformly distributed throughout the thickness of the epidermis. Griscelli syndrome was characterized by an irregular pigment distribution in the epidermal basal layer with large and dense granules alternating with areas lacking melanin pigment. In two cases, study of the hair was not conclusive, but the skin showed the characteristic pattern of Griscelli syndrome. Conclusion Skin biopsy is a useful tool in differentiating Chediak-Higashi syndrome from Griscelli syndrome and as a complementary study in cases in which hair shaft pigment distribution does not support the diagnosis, especially in patients with fair hair. The distribution of melanin granules in the skin correlates with that observed in the hair shaft, allowing Chediak-Higashi syndrome to be differentiated from Griscelli syndrome, at any age.

Las anomalías vasculares (AV) comprenden un grupo heterogéneo de alteraciones en los vasos sanguíneos y linfáticos. La Sociedad Internacional para el Estudio de las Anomalías Vasculares (ISSVA) las clasifica en dos grupos: tumores y malformaciones vasculares. Las malformaciones vasculares son entidades secundarias a errores congénitos durante la morfogénesis vascular. De acuerdo con el vaso malformado se dividen en: capilares, linfáticas, venosas, arteriovenosas, fístulas arteriovenosas, malformaciones combinadas, de grandes vasos y asociadas a otras anomalías. Las malformaciones capilares afectan piel y mucosas, se presentan como manchas de aspecto vascular, con mayor frecuencia en cabeza y cuello, cuyo color varía desde un tono rosado a un eritemato-violáceo. Las malformaciones linfáticas se manifiestan como un incremento de volumen subcutáneo, bien delimitado, de consistencia blanda, sin cambios en la coloración de la piel subyacente. Las malformaciones venosas se presentan como un aumento de volumen mal delimitado, de consistencia suave y compresible, la piel de la superficie presenta una coloración azul-violácea y si bien son congénitas, pueden no ser evidentes hasta la pubertad o posterior a un traumatismo. Finalmente, las malformaciones arteriovenosas que son las menos frecuentes, se presentan como un incremento de volumen subcutáneo, mal delimitado, de consistencia firme con un thrill o pulso a la palpación. La importancia de este segundo artículo de AV radica en poder categorizar de una manera inicial, si se trata de un tumor o una malformación vascular, con el fin de ofrecer un abordaje y manejo interdisciplinario y dirigido.

Atopic dermatitis is the leading cause of pediatric dermatology visits in developed nations. Recurrent, itchy rashes in typical locations and a family/personal history of atopy helps to identify children with disease. Most cases (85%) are diagnosed by age 5 years. Some comorbidities are age-based and may affect disease course. Topical corticosteroids are the mainstay of therapy; corticosteroidphobia and side effects complicate use. Topical calcineurin inhibitors are alternatives to corticosteroids, especially in sensitive locations. Systemic therapies include antihistamines, immune suppressive agents, and phototherapy, with specific pediatric modifications. This article reviews the nuances and caveats of pediatric atopic dermatitis diagnosis and management.

Las anomalías vasculares son un grupo heterogéneo de alteraciones en los vasos sanguíneos y linfáticos. La International Society for the Study of Vascular Anomalies (ISSVA) las clasifica en: tumores y malformaciones vasculares. En este artículo (primera parte de dos) se revisan los principales tumores vasculares en pacientes pediátricos, su fisiopatogenia, manifestaciones clínicas, diagnóstico y tratamiento. Nos enfocaremos en el hemangioma infantil, hemangiomas congénitos, granuloma piógeno, angioma en penacho y hemangioendotelioma kaposiforme.El hemangioma infantil es el tumor vascular más frecuente, aparece en las primeras 4 semanas de vida y crece con rapidez, para posteriormente involucionar en la etapa preescolar. Se manifiesta como una neoformación vascular, de coloración eritematoviolácea, de tamaño variable. Los hemangiomas congénitos son más raros, están completamente desarrollados al nacimiento porque su crecimiento es intrauterino. El granuloma piógeno es el tumor vascular más frecuente, después del hemangioma infantil, y se manifiesta como una neoformación de color rojo-violáceo, exofítica; es de crecimiento rápido y sangra fácilmente. El angioma en penacho y el hemangioendotelioma kaposiforme, que algunos autores consideran espectros de una misma enfermedad, son tumores vasculares poco frecuentes que suelen aparecer en los primeros meses de vida y que se asocian con complicaciones hematológicas: fenómeno de Kasabach-Merritt, que puede poner en riesgo la vida del paciente.La clasificación adecuada de los tumores vasculares es indispensable para la correcta comunicación entre las especialidades implicadas, con el fin de establecer el diagnóstico correcto y planificar el tratamiento.

El uso prolongado de esteroides tópicos en niños se puede asociar con efectos adversos locales y sistémicos. Se presenta el caso de una paciente de seis meses de edad con síndrome de Cushing iatrogénico y sarna costrosa tras el uso de betametasona al 0.05% en el área del pañal. La sarna costrosa es una variedad de escabiosis que tiene la particularidad de ser más extensa y más contagiosa; generalmente se observa en pacientes inmunodeprimidos. En este caso fue favorecida por la aplicación crónica de esteroides tópicos. Los médicos de primer contacto y los padres deben conocer los efectos secundarios potenciales de los esteroides tópicos, especialmente en áreas de piel delgada o cubierta (como el área del pañal) en donde la absorción de los esteroides tópicos se incrementa.

Keratosis lichenoides chronica (KLC) is a rare acquired disease of adulthood, of unknown etiology, characterized by keratotic parallel linear lesions, retiform plaques, and keratotic, often follicular papules, chronicity and lichenoid histopathologic features. KLC of pediatric onset is considered extremely rare. Its features and relationship to adult onset KLC are unknown. We studied 8 cases of pediatric-onset KLC in the literature and 6 personal cases and compared them with 40 reported adult-onset KLC patients. The following features characterize pediatric-onset KLC: familial occurrence; probable autosomal recessive inheritance; early or congenital onset with facial erythemato-purpuric macules; forehead, eyebrow, and eyelash alopecia; pruritus; and a low frequency of other cutaneous and systemic abnormalities. Pediatric-onset KLC may represent a different disease or a subset of adult-onset KLC, with special genetic and clinical characteristics. Determining its precise nosology will have prognostic and therapeutic implications.

Indeterminate cell histiocytosis is a rare disorder involving altered homing mechanisms of the cutaneous histiocytic/dendritic system. It has been described predominantly in adults, with less than a dozen cases in children. A 13-year-old adolescent girl presented with a 4-year history of asymptomatic erythematous nodules and plaques, measuring from 1 to 5 cm in diameter, that were located mainly on the trunk and proximal portions of her limbs. A skin biopsy showed dermal diffuse infiltration of histiocytic cells. Most of the histiocytic cells were strongly positive for S100 protein. No Birbeck granules were found. Treatment with topical steroid was ineffective. After 6 months of pure coal tar and 5% 5-fluorouracil cream, an almost total clearing of lesions was observed. An accurate diagnosis of this condition is mandatory in order to avoid unnecessary treatments. Conservative management is also discussed.

The major types of hair shaft defects are associated with genodermatoses and syndromes. Clinically, hair shaft defects may cause an unusual appearance, or a fragile short and sparse hair. Light microscopy of hair shaft defects are classified by their morphology and it is an important tool for diagnosis. Hair shaft disorders are separated by hair fragility into those with or without increased fragility. Those with increased fragility include monilethrix, pili torti, trichorrhexis nodosa, trichorrhexis invaginata and trichoschisis. Hair shafts without increased fragility include pili annulati, loose anagen hair, wooly hair and uncombable hair. Advances in the genetic causes of the hair shaft defects are described in the different entities, which have allowed to understand the mechanisms of the defects and to elucidate normal and pathogenic pathways. In patients with hair shaft abnormalities as an isolated defect, the main problem is aesthetical. In contrast, when the hair shaft defects are associated with syndromes the prognosis will depend on the associations of each condition, especially when metabolic, neurologic or cardiac defects are present.

Background Trisomy 14 mosaicism is a rare chromosomal abnormality. It is associated with multiple congenital anomalies. We report a 15 year-old female with an unusual karyotype with three cell lines: 47,XX,+mar/47,XX,+14/46,XX. At six months old she had short stature, cleft palate, hyperpigmented linear spots in arms and legs and developmental delay. At present, she has mild facial dysmorphism and moderate mental retardation. Methods Cytogenetic analysis was performed in peripheral blood lymphocytes and in the light and dark skin following standard methods. DNAarray – Oligo 180 k was carried out using Agilent Technologies and FISH analysis was accomplished using DNA BACs probes to confirm the result obtained by DNAarray. Methylation-Specific PCR (MS-PCR) of the MEG3 promoter and microsatellite analysis were performed. Results Microarray analysis confirmed partial trisomy 14 mosaicism; the marker chromosome was found to be from chromosome 14, the result was confirmed with FISH. Methylation (14q32.3) and microsatellite (14q11-14q32.33) analysis were carried out and UPD was discarded. The global result was: mos 47,XX,+del(14)(q11.2)[45]/47,XX,+14[10]/46,XX[45]. Conclusions This is a unique case because of the coexistence of two abnormal cell lines, including one with +14 and another with +del(14)(q11.2). To our knowledge, only three patients have been reported with trisomy 14 and another abnormal cell line. The array analysis identified the marker chromosome and characterized the breakpoint. The del(14)(q11.2) does not seem to be related to any particular phenotypic characteristic of the patient; the clinical features of our patient observed until now, can be attributed to trisomy 14 mosaicism. Nevertheless, we cannot discard the manifestation of new symptoms related to her karyotype in the future. Electronic supplementary material The online version of this article (doi:10.1186/s13039-014-0065-8) contains supplementary material, which is available to authorized users.

Congenital enlargement of one or several digits of the hands or feet (macrodactyly) is a rare disorder. A considerable proportion of the patients with this condition are referred to dermatology departments. The majority of the cases reported in the literature represent hamartomas with combined hypertrophy of several, predominantly lipomatous, soft tissue components and overgrowth of bone. The differential diagnosis includes Klippel-Trenaunay-Weber syndrome, neurofibromatosis, Milroy disease, and Proteus syndrome. We describe eight cases of congenital macrodactyly, discuss the findings, and propose a simple clinicopathologic terminology.

Benign cephalic histiocytosis (BCH) is best understood as a form of non-Langerhans cell histiocytosis, specifically as an early mononuclear variant of juvenile xanthogranuloma (JXG). However, the progression of BCH into JXG in the same patient has only been reported once before. We describe the case of a 2-year-old girl with asymptomatic, large, ill-defined infiltrated flat plaques over both cheeks, in addition to isolated papules. A punch biopsy of a plaque revealed dermal infiltration by vacuolated and scalloped histiocytes positive for CD68 KP-1, and that lacked expression of CD1a and S-100 protein, favoring macrophages over Langerhans cells. Electron microscopy study showed comma-shaped intracytoplasmic bodies in the histiocytic cells leading to the diagnosis of BCH. One year later, after an episode of varicella-zoster infection, the flat plaques over the cheeks became large reddish-yellow nodules, and in a second biopsy appeared to progress to JXG. Virus-related mechanisms of progression are discussed.

Background: Extensive epidermal necrosis in newborn infants is an unusual event of heterogeneous cause. Objective: The objective of this article is to describe what seems to be a previously unrecognized lethal disease. Methods: The clinical and histopathologic features of three premature infants, two of them nonidentical twins, and the autopsy findings of one of them were analyzed. Results: Intrauterine lethal epidermal necrosis with hair follicle calcification, except for the face, hands, feet, elbows, and knees, was present in all three patients. Some histopathologic features were suggestive of epidermal apoptosis. Conclusion: We propose that the clinicopathologic alterations in our patients represent a new condition that may be caused by massive epidermal apoptosis.(J Am Acad Dermatol 1998;38:712-5.)

Hydroa vacciniforme-like lymphoma (HVLL) is an Epstein-Barr virus (EBV)-positive T-cell lymphoproliferative disorder of childhood that occurs mainly in Central and South America and Asia. We present the clinicopathological features of 20 Mexican children with HVLL with a median age of 8 years at diagnosis (range, 1-15). All patients presented with skin lesions involving sun-exposed areas, but not exclusively. Fever, lymphadenopathy, and hepatosplenomegaly were often observed. Most patients were treated with immunomodulators and/or immunosuppressive agents, resulting in temporary remission. For 13 patients follow-up was available for a median of 3 years (range, 1 month-13 years). Three patients with long follow-up (9-13 years) are alive with disease. Four patients died, 2 after developing systemic lymphoma. Histologically, the skin showed a predominantly angiocentric and periadnexal Epstein-Barr early RNA+ lymphoid infiltrate with variable atypia and subcutaneous involvement. Fifteen patients showed a T-cell phenotype (12, αβ; 2, γδ; 1, silent phenotype) and monoclonal T-cell receptor-γ rearrangements, whereas 6 exhibited a natural killer (NK)-cell phenotype. Four patients had hypersensitivity to mosquito bites. One patient showed both phenotypes. HVLL is an EBV-associated lymphoproliferative disorder of αβ-, γδ-, or NK-cell phenotype with a broad clinical spectrum, usually prolonged clinical course, and risk for progression to systemic disease.

We present the literature review of ring chromosome 7 and clinical, cytogenetic and fine molecular mapping of the first postnatal report of a male child with a non-supernumerary ring chromosome 7, r(7). The patient had dysmorphic features, developmental delay, dermatologic lesions with variable pigmentation, hypogenitalism, lumbar dextroscoliosis, cerebellar and ophthalmological abnormalities, and melanocytic congenital nevi. Cytogenetic analysis of peripheral blood and the nevus sample showed the presence of three different cell lines r(7), monosomy 7, and duplicated r(7) (idic r(7)), while findings on fibroblasts from both light and dark skin showed only mosaicism with r(7) and monosomy 7 cell lines in various proportions. FISH assay of the ring chromosome showed subtelomeric loss in both chromosome arms in all tissues studied. Analysis by genome-wide single-nucleotide polymorphism array showed a 0.8 Mb deletion in 7p22.3 (involving eight genes) and a 7.5 Mb deletion in 7q36 (involving 29 genes including some involved in genital and central nervous system development). The combination of results from our karyotypic and array analyses enabled us to establish an accurate genotype-phenotype relationship. © 2014 Wiley Periodicals, Inc.

Epidermolysis bullosa (EB) is a blistering disorder that can be autosomic or dominantly inherited and has a wide spectrum of clinical presentations. The most recent classification divides EB into four basic subtypes: (1) EB simplex, (2) junctional EB, (3) dystrophic EB and (4) Kindler syndrome; depending on the level of the epidermal-dermal junction where the formation of blisters is present. With the use of immunohistochemistry and molecular biology, new mutation genes and proteins have been identified and more than thirty subtypes of EB have been described according to text phenotype, each affecting different key proteins for the structural integrity of the skin. The phenotype can be a mild one where blisters occur after minor trauma, but quality of life is preserved or a severe one with multisystemic manifestations affecting skin, mucous membranes, bones, joints, nutritional status, and cancer development leading to early death. We describe the clinical manifestations, diagnostic approach, and multidisciplinary management of EB subtypes.

Servelle-Martorell syndrome (SMS) is an extremely uncommon vascular malformation characterized by venous malformations (VMs), limb overgrowth, and bone hypotrophy. The most common complications are venous thrombosis and pathological fractures. Ectasia and aneurysmal dilatations of the superficial veins may result in overgrowth of soft tissues but shortening of the affected limb. We report an 11-year-old Hispanic boy with an enlarged lower limb and VM. The patient suffered a fall at 9 years of age resulting in ankylosis of the knee without the possibility of limb extension or walking. When he tried to stand up, a severe orthostatic hypotension and almost loss of consciousness were present. An angio computed tomography and an arteriography demonstrated a complete absence of the deep venous system and bony hypotrophy compatible with SMS.

Background Transient myeloproliferative disorder (TMD) affects up to 10% of patients with Down syndrome (DS). A small proportion of newborns are asymptomatic and only manifest circulating blast cells, with or without leukocytosis, while others present with hepatomegaly, splenomegaly, serous effusions, and liver fibrosis. Few cases in the literature also have skin manifestations, described as crusted, erythematous, vesiculopustular eruptions occurring mainly on the face, with spreading to the trunk and extremities. Materials and methods Four patients with DS and TMD were studied due to the presence of cutaneous eruptions. Systemic involvement, work-up, and follow-up were documented for each patient. Our results were compared with the previously reported cases. Results All patients were males, with ages ranging from 1 to 20 days at the time of diagnosis. In three patients, the eruption was papulopustular, and two of them also had vesicles. In one patient, lesions resembled bullous impetigo. In all, the lesions involved the face, followed by the extremities in three and the trunk in two patients. Pathergy phenomena was present in one patient. Hepatomegaly and a leukemoid reaction were present in all patients. Bone marrow showed an M7 immunophenotype in three patients and normal cellularity in one. Follow-up ranged from 2 to 11 months, during which the patients were healthy. Conclusions Recognition of the cutaneous eruptions associated with TMD in neonate patients with DS may lead to early diagnosis and avoidance of unnecessary chemotherapy. However, because leukemia may develop later, careful follow-up is mandatory in all cases.

The common manifestations of atopic dermatitis (AD) appear sequentially with involvement of the cheeks in infancy, flexural extremities in childhood, and hands in adulthood. Although less common clinical manifestations are well described, they have not been the subject of epidemiologic studies to describe their prevalence in specific age groups. This observational, cross-sectional, comparative study included 131 children younger than 18 of both sexes with AD who attended the clinics of the Dermatology Department of the National Institute of Pediatrics in Mexico City. Patients were examined to determine the presence of infrequent clinical manifestations of AD during infancy, preschool and school age, and adolescence and stratified according to sex, age, and number of clinical signs. A chi-square test was used to detect differences according to age and sex. Logistic regression analysis was also performed. The main findings according to age were genital dermatitis and papular-lichenoid dermatitis variant in infants; atopic feet, prurigo-like, nummular pattern, and erythroderma in preschool and school-aged children; and eyelid eczema and nipple dermatitis in adolescents. The risk of development of nipple dermatitis and eyelid eczema increased with age, and the development of genital dermatitis decreased with age. The knowledge of the prevalence of less common clinical manifestations of AD according to age in different populations might be helpful in diagnosing incipient cases of AD.

The frequency of different malignant cutaneous tumors (MCTs), primary and metastatic, in children is not known. We reviewed all MCTs, primary and metastatic, seen during a 20-year period in a large general pediatric hospital. Fifty-three MCTs, 36 primary and 17 metastatic, were diagnosed in 36,207 pediatric dermatology patients. The incidence was 1.4 per 1000 patients. The relative frequency of occurrence of the different tumors was as follows: rhabdomyosarcoma, 25%; lymphomas, 19%; basal cell carcinoma, 13%; leukemia, 13%; neuroblastoma, 10%; malignant melanoma, 6%; squamous cell carcinoma, 6%; unclassified sarcomas, 4%; epithelioid schwannoma, 2%; ependymoma, 2%. The mean follow-up was 3 years; 48% died, 27% were lost to follow-up, and 25% are under control. We conclude that primary and metastatic MCTs in children are rare. Their types differ from MCTs in an older age population. MCTs in children are associated with a high mortality rate, often related to late recognition.

An infant with self-healing, multifocal cutaneous infantile myofibromatosis with leg-length discrepancy as a sequela is reported. This condition should be suspected in infants with one or more firm or hard nodules in the skin, subcutaneous tissue, bone, muscle, or viscera. The histopathologic picture is diagnostic. Treatment and prognosis depend on the extension and location of the tumors.

Background The focal facial dermal dysplasias (FFDDs) are a group of inherited disorders of facial development, characterised by bitemporal or preauricular scar-like defects, the former resembling ‘forceps marks’. Recently, different homozygous TWIST2 nonsense mutations were reported in unrelated Setleis syndrome (FFDD Type III) patients from consanguineous families, consistent with autosomal recessive inheritance. Mexican-Nahua sibs with facial and ophthalmologic features of FFDD type III were evaluated. Methods Genomic DNAs were isolated for sequencing of the TWIST2 gene. The clinical features and inheritance of all previously reported FFDD patients were reviewed. Results The affected sibs were homozygous for a novel TWIST2 frameshift mutation, c.168delC (p.S57AfsX45). Notably, both parents and two heterozygous sibs had distichiasis and partial absence of lower eyelashes. The FFDD subtypes were reclassified: the ‘Brauer-Setleis’ phenotype (autosomal dominant with variable expressivity) as FFDD type II; and patients with preauricular lesions as a new subtype, FFDD type IV. Conclusions FFDD type III heterozygotes with TWIST2 mutations may have syndromic manifestations. Review of previous FFDD patients resulted in reclassification of the subtypes.

A case of circle hairs is reported and the literature on the subject reviewed. Differential diagnoses are discussed as well as some theories on the nature of circle hairs.