Nevo poroqueratósico del ostium y el ducto dérmico ecrinos: reporte de caso / Porokeratotic eccrine ostial and dermal duct nevus: case report

El Nevo Poroqueratósico del Ostium y el Ducto Dérmico Ecrinos (NPODDE), es un raro hamartoma benigno de los conductos de las glándulas sudoríparas ecrinas, puede presentarse desde el nacimiento o también en edades posteriores. Su etiología plantea una alteración en la queratinización debido a una mutación somática en el gen GJB2 que codifica para una proteína de unión gap. Esta mutación también está relacionada con el síndrome KID por lo cual la asesoría genética es crucial en estos pacientes. Clínicamente puede presentarse como hoyuelos hiperqueratósicos en palmas y plantas que normalmente son asintomáticos. El diagnostico se confirma con la histopato-logía que muestra una laminilla cornoide sobre el conducto ecrino subyacente. La entidad es benigna y de difícil tratamiento siendo refractaria a varias modalidades terapéuticas. Se presenta un caso de un paciente adulto masculino con lesiones típicas en palmas y plantas, a quien con la biopsia de piel se le confirmó el diagnóstico de NPODDE. Dado la baja frecuencia de esta condición el objetivo de este artículo radica en actualizar los aspectos más relevantes de esta entidad.

Porokeratotic Eccrine Ostial and Dermal Duct Nevus (PEODDN) is a rare benign hamartoma of eccrine sweat gland ducts, it can present from birth or also at later ages. Its etiology implies an alteration in keratinization due to a somatic mutation in GJB2 gene, that codes for a gap junction protein. This mutation is also associated with KID syndrome so genetic counseling for parents is crucial. Clinically it can present as keratotic pits in palms and soles that are usually asymp-tomatic. The diagnosis is confirmed by histopathology that shows a cornoid lamellae on the underlying eccrine duct. The entity is benign and the treatment is difficult, being refractory to seve-ral therapeutic modalities. We present a case of a male adult patient with typical lesions on palms and soles, who was diagnosed with PEODDN by skin biopsy. Given the low frequency of this con-dition, the objective of this article is to update the most relevant aspects of this entity.

Ocular Manifestations and Histologic Characteristics of Keratitis-Ichthyosis-Deafness (KID) Syndrome

PURPOSE: Keratitis-ichthyosis-deafness (KID) syndrome is a congenital ectodermal disorder presenting the triad of vascularizing keratitis, erythrokeratoderma, and sensorineural deafness. Ocular manifestations such as hyperkeratinization of the eyelids, loss of eyelashes, keratoconjunctivitis sicca, corneal erosions, ulceration, neovascularization, and scarring opacity may be absent or mild, but if present and severe, they can lead to major visual loss. We report a patient with KID syndrome with severe ocular manifestations and the histologic characteristics of a corneal lesion. CASE SUMMARY: A 5-year-old boy was referred to the Ophthalmology Department for bilateral hyperkeratinization of eyelids, bare eyelashes, and corneal opacity. He showed hyperkeratotic skin lesions and sensorineural hearing loss. Molecular analysis showed a mutation in the GJB2 gene and confirmed the diagnosis of KID syndrome. Initial conservative treatment did not preserve ocular surface integrity, and instead it was maintained by surgical procedures including superficial lamellar keratectomy with amniotic membrane transplantation. The histologic characteristics of corneal lesions are abnormal epithelial differentiation, absence of connexin 26 expression, and partial destruction of the basement membrane.

A Case of Keratitis, Ichthyosis and Deafness(KID) Syndrome

KID syndrome was named after the initials of the major three symptoms of the disease; keratitis, ichthyosis, and deafness. The syndrome was first introduced by Dr. Burns in 1915 who described one of his patients with those symptoms. In 1981, Dr. Skinner and his colleagues reported 17 patients who had keratitis, ichthyosis, and deafness. They also called the disease KID syndrome for the first time. After that, there have been only 60 cases of KID syndrome reported. KID syndrome may be presented with neurosensory deafness, vascularizing keratitis and such skin disorders as ichthyosis, ichthyosiform skin eruptions, and alopecia. Also, those with KID syndrome may suffer from repetitive infections, dental affections, hypohidrosis, growth delay and hepatic and renal abnormalities. The authors report the first case of KID syndrome in Korea with some references. The patient presented with keratitis, neurosensory deafness, and such characteristic skin disorders as ichthyosis and hyperkeratosis.