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We present a new case of a cutaneous bronchogenic cyst on the scapular area in a 2-year-old boy. The asymptomatic nodule over his right scapula had been detected at birth and had been gradually growing. Cutaneous bronchogenic cysts located near the scapula are extremely rare. The proposed mechanism is that the accessory buds from the tracheobronchial tree/primitive foregut migrated from the thorax in an aberrant manner to lie in a periscapular position. Cutaneous bronchogenic cysts are poorly recognized by clinicians because they lack pathognomonic clinical symptoms. The diagnosis is based on the histopathological findings in the majority of cases. Complete excision and histological examination are indicated to confirm the diagnosis, to relieve symptoms, and to prevent complications, such as infection or malignancy.

Epidermolysis bullosa simplex with mottled hyperpigmentation (EBS-MP) is an uncommon subtype of EBS. Its clinical features depend on the age of diagnosis, and clinical variations have been described even within family members. We present six cases from two unrelated Spanish families each with several affected members with EBS-MP and review the clinical and genetic findings in all reported patients. We highlight the changing clinical features of the disease throughout life.

[Background]: Previous reports on the prevalence of autosomal recessive congenital ichthyosis (ARCI) were based on single source data, such as lists of members in a patient association. These sources are likely to be incomplete. [Objectives]: We sought to describe the prevalence of ARCI. [Methods]: We obtained data from 3 incomplete sources (dermatology departments, a genetic testing laboratory, and the Spanish ichthyosis association) and combined them using the capture-recapture method. [Results]: We identified 144 living patients with ARCI. Of these, 62.5% had classic lamellar ichthyosis and 30.6% had congenital ichthyosiform erythroderma. The age distribution included fewer elderly patients than expected. The prevalence of ARCI in patients younger than 10 years, the best estimate as less subject to bias, was 16.2 cases per million inhabitants (95% confidence interval 13.3-23.0). According to the capture-recapture model, 71% of the patients were not being followed up in reference units, 92% did not have a genetic diagnosis, and 78% were not members of the ichthyosis association. [Limitations]: The prevalence of ARCI in Spain and findings related to the Spanish health care system might not be generalizable to other countries. [Conclusions]: The prevalence of ARCI is higher than previously reported. Many patients are not being followed up in reference units, do not have a genetic diagnosis, and are not members of a patient association, indicating room for improvement in their care. Data suggesting a reduced number of older patients might imply a shorter life expectancy and this requires further study.

Neonatal lupus erythematosus (NLE) is an uncommon condition usually associated with maternal anti-Ro autoantibodies. The cutaneous lesions of NLE are usually transient, disappearing about six months after birth, but telangiectasia is a rare complication of NLE which persists. Telangiectasias are small focal red macules and papules created by abnormally prominent capillaries, venules, and arterioles and are a characteristic marker of connective tissue diseases. We report the case of an infant diagnosed with NLE presenting typical annular lesions, positive ANA and positive anti-Ro antibodies. By five months of age, both ANA and anti-Ro antibodies were negative and the annular cutaneous lesions had gradually faded, but small scattered focal red macules appeared on the face, especially in the peri-orbital area and scalp. The cutaneous lupus disappeared but the telangiectasia persisted. We would like to suggest that the diagnosis of NLE should be considered when cutaneous telangiectasias are observed in infants.

Introduction Le syndrome trophique du trijumeau est une cause peu habituelle d’ulcere. Le diagnostique differentiel se pose avec les tumeurs cutanees, vascularites, maladies infectieuses, maladies granulomateuses et la dermatite factice. Nous rapportons le cas d’une jeune fille presentant des ulceres indolores dans la muqueuse orale avec une mauvaise evolution. Observations Une patiente, âgee de 6 ans, consultait pour la presence sur la langue, d’un ulcere indolore, evoluant depuis pres de deux mois et se propageant progressivement a la levre superieure droite et a l’aile de la narine droite. L’examen dermatologique montrait un ulcere de la langue avec le bord blanc et un autre sur les deux levres et sur l’aile de la narine droite avec la presence de croutes sans aucun signe d’infection, sur une peau saine sans autres lesions associees. Deux ans auparavant, la patiente avait presente un hematome spontane dans l’hemisphere droit du cervelet a cause d’une malformation arterio-veineuse qui avait entraine une admission a l’unite de soins intensifs pendant 9 jours. Pendant deux ans, 12 embolisations successives avaient ete realisees et en septembre 2013, une intervention chirurgicale etait pratiquee afin d’effectuer une resection de la malformation. A la suite de l’intervention, la patiente souffrait d’un syndrome de la fosse posterieure, avec hemiparesie discrete de l’hemicorps droit et paralysie faciale droite. Grâce a des seances de reeducation la patiente recuperait progressivement de la mobilite. Au fur et a mesure qu’elle recuperait la sensibilite du cote droit du visage l’ulcere apparaissait. Compte tenu des antecedents cliniques du patient et apres l’exclusion d’autres causes, le diagnostic envisage etait celui d’un syndrome trophique du trijumeau. Discussion Une des causes du developpement du syndrome trophique du trijumeau est l’insuffisance vertebro-basilaire apparue au decours de la chirurgie. La pathogenie n’est pas claire, mais elle est consideree comme etant due a un mecanisme physique d’automutilation faisant suite a l’anesthesie et a la paralysie par l’innervation sensitive faciale via le nerf trijumeau. Le traitement est difficile ; il repose sur la therapie basee sur le changement de comportement, sur un traitement medicamenteux (carbamazepine, gabapentine, amitriptyline), sur la stimulation nerveuse transcutanee de protection ou sur une reparation chirurgicale. Conclusion Un cas d’ulcere indolore de la muqueuse orale et du visage chez une fille de six ans en raison de syndrome trophique du trijumeau, apparu apres une operation chirurgicale du cervelet. Ce cas nous rappelle l’importance de l’histoire neurologique d’un patient dans l’apparition d’un ulcere du visage.

Congenital candidal infection usually presents as skin rash but it can also affect skin appendages. Nail involvement in congenital candidiasis is rare and has been usually associated with cutaneous lesions. We report 6 cases of congenital candidiasis limited to nail plates that had favorable outcome.

Exposure to varicella-zoster virus in utero or during the first months of life is the main risk factor for the development of herpes zoster (HZ) in healthy children. We report a case series of 16 infants and toddlers who presented with HZ after early exposure to varicella-zoster virus. Two patients had recurrences. Despite the severity of the rash in some cases, the benign course and the long-term good prognosis of HZ in healthy children is noteworthy.

Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a congenital hamartoma that has rarely been documented.To describe the clinical and histological features of 10 patients with PEODDN.A retrospective study of 10 patients with PEODDN attended in our paediatric hospital between 1999 and 2009 was performed. The clinical and histopathological features were reviewed.Nine children and one adult were included in the study. In 6 cases the lesion was present at birth and they were unique in 5 cases and systematized in the other 5 cases. Two cases in the same family are reported. The lesions were most commonly found on the extremities, although the palms or soles were involved in 9 cases and only in one case there was not affection of this area. The lesions were mostly asymptomatic but there was moderate itching in two cases. Clinical examination revealed no extracutaneous involvement.PEODDN is a rare disorder that usually appears at birth or early childhood. It has a linear distribution following the Blaschko lines. To our knowledge this is the largest series reported in English literature and we also describe the first family case.

Background Phylloid hypomelanosis is a rare neurocutaneous syndrome characterized by a pattern of hypopigmentation consisting of leaflike or oblong macules reminiscent of floral ornaments. Associated extracutaneous anomalies include cerebral, ocular, and skeletal defects. Recently it has been suggested that this phenotype originates from mosaic partial or complete trisomy 13. We report clinical and cytogenetic data for 2 cases. Observations A bizarre pattern of multiple leaflike macules was noted in 2 girls with mental deficiency. In patient 1, additional anomalies included syndactyly, clinodactyly, trichomegaly of the eyelashes, low frontal hairline, and several pale pink telangiectatic macules. In patient 2, epileptic seizures, dental malposition, oligodontia, preauricular fistulas, scoliosis, tethered cord, and syringomyelia were noted. A diagnosis of phylloid hypomelanosis was made in both patients. In both patients, blood lymphocytes showed a normal karyotype 46,XX; however, fibroblasts derived from lesional skin demonstrated tetrasomy of chromosome 13q21-qter in patient 1 and trisomy of 13q22-qter in patient 2. Conclusions These 2 cases lend further support to the concept that phylloid hypomelanosis is a distinct clinicogenetic entity that should no longer be confused with pigmentary mosaicism of the Ito type. From a comparison of our cytogenetic findings with those documented in previous articles, we infer that phylloid hypomelanosis is most likely related to the 13q region.

Skin manifestations have been described in 10-15% of patients with inflammatory bowel disease (Crohn's disease, ulcerative colitis, indeterminate colitis/inflammatory bowel disease type unclassified). There are limited data on the prevalence of these manifestations in paediatric patients, but recent studies have reported its presence in 8% of them at diagnosis. Our aim is to report the different skin manifestations observed in our paediatric patients with inflammatory bowel disease. Case 1: Erythema nodosum at Crohn's disease diagnosis. Typical presentation with painful erythematous nodules in the pretibial region and with good response to infliximab. Case 2: Coexistence of pyoderma gangrenosum and mucocutaneous Sweet's syndrome in a Crohn's disease patient. A rapidly progressive disease that was controlled with systemic steroids but with significant residual lesions. Case 3 and 4: Metastatic Crohn's disease with good response to infliximab.

Malignant melanoma is becoming an increasingly important problem in public health as incidence rates have been increasing continuously in Caucasian populations. Childhood and adolescence is an important time of life for the formation and evolution of nevi, and the presence of a higher number of nevi in early life could predict a major risk of developing melanoma.(1) To determine the number of nevi and the dermoscopic pattern predominance in children of our population. (2) To relate it to constitutional and environmental factors.Clinical and dermoscopic examinations were performed in 180 children aged 1-15 years. A questionnaire including topics such as past history of sunburns, tanning ability, tendency to sunburn, history of sunlight exposure, use of sunscreens, tendency to freckle and family history of cancer was completed in a face-to-face interview with the parents. On clinical examination, we evaluated hair color, eye color, number of nevi and the presence of nevi in specific locations. All melanocytic lesions were examined dermoscopically, and all patterns were registered as present or absent. We also registered the predominant dermoscopic pattern of the child, defined as being present in more than 40% of all of the individual's nevi.The mean number of moles was 17.5. Male gender, past history of sunburns, facial freckling and family history of breast cancer were independent risk factors for having a higher number of nevi. We found that 61.1% of children had nevi on the face and neck, 17.2% on the buttocks, 11.7% on the scalp, 19.4% had acral nevi and 31.7% had congenital nevi. We found the presence of nevi in some of these locations to be a risk factor for having a higher number of nevi. The most frequent dominant dermoscopic pattern found in our population was the globular type. Interestingly, we found that the homogeneous pattern predominates in the youngest children, the reticular pattern predominates in adolescents and the dominant globular pattern is constant among all ages evaluated.This is the first study clinically and dermoscopically characterizing nevi in children from our population, and evaluating constitutional and environmental risk factors.

Second trimester amniocentesis is widely used for the prenatal diagnosis of congenital disorders. Direct fetal injury from needle puncture can cause cutaneous scarring and rarely leads to severe visceral complications. Before the advent of real-time ultrasonography, the incidence of cutaneous lesions after amniocentesis ranged from 0.1 % to 9 % in the different series. Few reports of cutaneous lesions after amniocentesis have been published since the advent of real-time ultrasonography, although the real incidence is unknown. Eight children with typical skin dimpling caused by needle puncture during second trimester amniocentesis are presented. Current amniocentesis has not completely eliminated the risk of needle puncture scarring of the fetus. Dermatologists, pediatricians and obstetricians should be aware of this complication, which may have medical and legal consequences.

Background Bullous pemphigoid (BP) is an autoimmune blistering disease that is rare in childhood. As in adult BP, antibodies against the 180-kDa antigen (BP180) seem to be involved in the pathogenesis of the disease, but, to date, only a small number of children with the disease have been examined immunologically. Observations We report the cases of 4 infants with BP aged 5 to 12 months. All of them had involvement of the hands and feet, and they all achieved a complete remission in less than 6 months when treated with oral prednisolone stearoyl glycolate. Three patients could be examined using antigen characterization techniques. Autoantibodies against the NC16A domain of BP180 were found by immunoblot assay in all 3 and by enzyme-linked immunosorbent assay in 2 of them. Interestingly, although IgA autoantibodies were detected in only 1 of them by indirect immunofluorescence, all of them had IgA autoantibodies, and 2 of the 3 had IgG autoantibodies against NC16A as detected by immunoblot assay. One patient also had IgG autoantibodies against the carboxyterminal domain of BP180. Conclusions IgA-specific antibodies against BP180 were detected in all our patients. These findings further raise the question about the relationship between BP and linear IgA bullous dermatosis, the most common autoimmune blistering disorder in children.

Neonatal lupus erythematosus (NLE) is an uncommon disease described mainly through isolated case reports and a few published series.To examine the clinical and serological spectrum, and course of the disease in neonates with NLE and cutaneous involvement.A retrospective study was performed that included all children with NLE that came to the Dermatology Department between 1995 and 2006.Eight children with a diagnosis of NLE with cutaneous involvement were identified, with a male:female ratio of 3:1. Anti-Ro antibodies were found in all cases and no cases with anti-RNP antibodies were found. Facial lesions were observed in all cases and in 7 cases the skin eruptions cleared within 4.3 months; the remaining patient was still in follow up when the data were collected. The clinical course of patients who were followed up was satisfactory.In our series, NLE was three times more frequent in males. Involvement of sun-exposed areas, such as the face with annular lesions was the most common finding. We found one case of NLE with cutaneous involvement and persistent ductus arteriosus. Anti-Ro antibodies were found in all cases and skin eruptions cleared by 7 months of age, concurrent with the waning of the maternally derived antibodies. Four of the mothers were asymptomatic and unaware of their condition, emphasizing the importance of following up these patients due to the possibility of developing an autoimmune disease.

Percutaneous poisoning is quite rare, and in particular, topical lactic acid poisoning is even more so. We report a young girl with lamellar ichthyosis and symptoms of poisoning, with clinical signs of irritability, agitation, myoclonia, and difficulty in walking, accompanied by lactic acidosis as a result of the more frequent than recommended application of emollients containing lactic acid. The clinical symptoms resolved upon discontinuation of the topical treatment. Among the possible causes of metabolic acidosis, health care providers should be aware of the possibility of percutaneous poisoning.

Neutral lipid storage disease (Chanarin-Dorfman syndrome) is an autosomal recessive metabolic disorder associated with congenital ichthyosis and a multisystemic accumulation of neutral lipids (lipid droplets) in various types of cells. The clinical presentation has been reported to correspond to that of nonbullous congenital ichthyosiform erythroderma. We report a 4-year-old boy presenting a generalized ichthyosiform disorder manifested by migrating scaly plaques alternating with areas of normal-looking skin, showing erythematous borders with sharp margins, clinically suggestive of erythrokeratoderma variabilis (EKV). A peripheral blood smear revealed cytoplasmic vacuoles in most granulocytes. Genetic studies from the patient and his parents revealed that the patient carried two different and novel mutations of the ABHD5 gene: a nonsense mutation in exon 6 (transmitted by the father) and an insertion/deletion in exon 4 (transmitted by the mother). Our observation demonstrates the clinical heterogeneity of the ichthyosiform dermatoses observed in Chanarin-Dorfman syndrome and widens the clinical range of conditions presenting migrating scaly plaques mimicking EKV.

Resumen El lupus eritematoso neonatal (LEN) es una enfermedad rara debida al paso transplacentario de autoanticuerpos maternos contra las proteinas Ro, La y/o RNP a la circulacion fetal. Estos anticuerpos maternos IgG cruzan la placenta y pueden danar potencialmente el tejido fetal y causar las manifestaciones clinicas del LEN. El LEN afecta mas al sexo femenino, no tiene predileccion racial y puede afectar a multiples organos. Las manifestaciones cutaneas se encuentran presentes en el 50% de los casos y mas frecuentemente se trata de lesiones similares al lupus eritematoso subagudo. Ademas de las manifestaciones cutaneas, los pacientes con LEN tienen un riesgo elevado de padecer un bloqueo auriculoventricular (BAV) congenito, una complicacion potencialmente fatal. Otras manifestaciones menos frecuentes son las hematologicas y las hepaticas. Aproximadamente la mitad de los pacientes tienen manifestaciones cutaneas, y la otra mitad manifestaciones cardiacas. Aproximadamente el 10% de los casos tienen ambas manifestaciones cutaneas y cardiacas. Las manifestaciones cutaneas, hematologicas y hepaticas son transitorias, curan hacia los 6 meses de edad y coinciden con el aclaramiento de los anticuerpos maternos. El BAV congenito es una manifestacion permanente que requiere de la implantacion de un marcapasos en la mayoria de los casos. Es recomendable que las pacientes con una enfermedad autoinmune conocida, o con anticuerpos anti-Ro y/o anti-La positivos, sean seguidas mediante ecografias durante el embarazo con el fin de detectar precozmente cambios susceptibles de recibir un tratamiento curativo. No existe todavia consenso sobre el tratamiento preventivo en pacientes de alto riesgo y en pacientes con riesgo de recurrencia, y de los posibles tratamientos preventivos, no existen suficientes datos que corroboren su eficacia. Si parece claro que el BAV detectado precozmente, sobre todo si es incompleto, seria sugestivo de tratamiento curativo con corticoides fluorados.

This pigmentation is clinically reminiscent of erythema ab igne, which has been related to long-term exposure to heat below the burn threshold. Such exposure to heat would cause erythema followed by postinflammatory pigmentation with this cutaneous vascular pattern. In our patient, as in the cases described in the literature, the hyperpigmentation did not recur in later cycles, although the drug was maintained and the dosage remained unchanged. It is therefore possible that the patient presented hyperpigmentation due to local toxicity of the drug, resulting from increased blood flow to this location, as would occur, for example, with an increase in ambient temperature. This would be interpreted as postinflammatory pigmentation of the overlying skin taking a cutaneous vascular pattern—similar to the supravenous hyperpigmentation described in association with 5-fluorouracil—due to subclinical phlebitis induced by the infusion or by localized hyperthermia. 6, 7 We conclude that this case of reticular hyperpigmentation was an exceptional side effect of 5-fluorouracil, even though the same symptom has also been associated with the infusion of other antineoplastic agents. We suggest it was produced by a higher concentration of the drug in areas of skin that experienced greater blood flow. It occurred as an asymptomatic and persistent cutaneous reaction that did not require any modification of the prescribed oncological treatment.

Childhood cutaneous mucinoses have been rarely reported and are difficult to classify. We describe two brothers who developed multiple, extensive cutaneous lesions during the first few months of life. Histologically the lesions were composed of mucin deposits in the dermis. In the first patient, the lesions spontaneously disappeared over the years. We believe that familial self-healing cutaneous mucinosis represents a unique entity not previously reported.