Incontinentia pigmenti in male patients.

BACKGROUND: Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis that is typified by distinctive cutaneous findings and often by abnormalities of teeth, hair, nails, eyes, musculoskeletal system, and central nervous system. The gene that is mutated in patients with IP has been mapped to Xq28 and encodes the NF-kappaB essential modulator, NEMO. Female patients with IP show functional mosaicism and cutaneous manifestations follow Blaschko's lines of ectodermal embryologic development. The condition is generally considered to be lethal in utero in male fetuses, suggesting that having some normal gene expression is critical for survival. OBSERVATIONS: We observed 9 boys with IP. All had normal karotypes and no apparent family history of IP. In 8 of these 9 patients, lesions were localized to one extremity at presentation. The diagnosis was confirmed by histopathologic examination that showed eosinophils within intraepidermal, multiloculated vesicles. One of the boys later developed dental and neurologic abnormalities. LIMITATIONS: The case series was small and the workup for these patients from different sites was not uniform. CONCLUSIONS: Male individuals may show cutaneous and noncutaneous features of IP in a limited distribution that allows survival. Postzygotic mutation/somatic mosaicism is the likely mechanism. Given the potential sequelae associated with this condition, continuing follow-up of these patients is recommended.

Neuropatía sensitiva y autonómica hereditaria tipo II / Hereditary sensory and autonomic neuropathy type II

Las neuropatías sensitivas y autonómicas hereditarias (NSAH) son un grupo de enfermedades caracterizadas por una serie de trastornos hereditarios degenerativos del sistema nervioso periférico. Asocian disfunción sensorial (táctil, térmica y nociceptiva) con diveros grados de alteración autonómica (reflujo gastroesofágico, hipotensión postural, e hiper o anhidrosis). El compromiso motor es leve o nulo. La clasificación en cinco tipos principales se basa en los patrones de herencia, las características clínicas y el grado de disfunción sensitiva y autonómica. Sin embargo, entidades adicionales siguen siendo descriptas, por lo que la clasificación está aún en revisión. En este trabajo se presentan dos nuevos casos de NSAH de tipo II. Motiva esta publicación la baja frecuencia de esta enfermedad, cuyo diagnóstico y enfoque multidisciplinario constituyen un desafío para prevenir o retrasar la aparición de secuelas irreversibles...

Hereditary sensory and autonomic neuropathies (HSANs) are a group of diseases characterized by a series of degenerative hereditary disorders of the peripheral nervous system. They are associated with sensory dysfunction (tactile, thermal, and nociceptive) and varying degrees of autonomic failure (gastroesophageal reflux, postural hypotension, hyperhidrosis or anhidrosis), with none or slight motor involvement. The classification into five main types is based on patterns of inheritance, clinical features, and the degree of sensory and autonomic dysfunction. However, additional entities continue to be described, so the classification is ongoing. Two new cases of HSAN II are herein presented. This paper has been motivated by the rarity of this disorder which early diagnosis and multidisciplinary approach constitute a challenge to prevent or delay the appearance of irreversible sequelae...

Mioquimia en hamartoma de músculo liso congénito: dos casos / Hamartomade myokymia in congenital smooth muscle: two cases

La mioquimia es un signo raro de presentación del hamartoma de músculo liso congénito. Este fenómeno resulta de la contracción espontánea, neuralmente inducida, de las fibras del músculo liso. Se presentan dos pacientes con mioquimia de comienzo neonatal como única manifestación de hamartoma de músculo liso congénito, uno de ellos asociado a tetralogía de Fallot.

Myokymia is an unusual manifestation of congenital smooth muscle hamartoma. This phenomenon results from neurally induced spontaneous contraction of dermal smooth muscle. We report two cases of neonatal miokymia as unique signs of congenital smooth muscle hamartoma, one of them in association with Fallot´s tetralogy.

Síndrome de Ramsay-Hunt: un caso pediátrico / Ramsay-Hunt syndrome: a pediatric case

El síndrome de Ramsay-Hunt es una afección rara, caracterizada por parálisis facial periférica, erupción en el pabellón auricular ipsilateral y compromiso vestibular-coclear. Es producido por la reactivación del virus varicela zoster a nivel del ganglio geniculado. Representa la segunda causa más frecuente de parálisis facial periférica atraumática. Presentamos un caso de síndrome de Ramsay-Hunt en una niña de 12 años, sin antecedentes previos relevantes, que manifestaba una erupción herpética en la zona auricular derecha acompañada de otalgia aguda y parálisis facial periférica. Fue tratada con aciclovir y corticoides, evolucionando satisfactoriamente. El síndrome de Ramsay-Hunt es una entidad poco frecuente en pediatría y debe sospecharse en niños con parálisis facial periférica, eritema, vesículas y/o dolor auricular. El tratamiento precoz con aciclovir y corticoides puede mejorar la evolución de la parálisis facial periférica.

Ramsay-Hunt syndrome is a rare affection characterized by peripheral facial paralysis, skin eruption in the auricular canal and cochleovestibular symptoms. It is produced by varicella-zoster virus reactivation at the geniculate ganglia. We report a case of Ramsay-Hunt syndrome in a healthy 12-year-old girl who presented a herpetic eruption on the right ear accompanied by acute otalgia and peripheral facial nerve palsy. Ramsay-Hunt syndrome is an infrequent disease in the pediatric population and it should be suspected in children with peripheral facial paralysis, erythema, vesicles and/or auricular pain. Early treatment with acyclovir and steroids could improve the recovery rate of facial nerve palsy.

Evaluación de tumores cutáneos en la infancia / Evaluation of cutaneous tumors in infancy

Se analizó un estudio retrospectivo de las lesiones tumorales en la infancia durante un período de cinco años (1994-1998) en el Servicio de Dermatología del Hospital Humberto Notti de Mendoza, Argentina. El 99 por ciento de la patología tumoral correspondió a tumores benignos, y los nevus melanocíticos fueron los de mayor frecuencia