Hiperqueratosis epidermolítica. Presentación de caso / Epidermolytic hyperkeratosis. Case presentation

Fundamento: La hiperqueratosis epidermolítica es una genodermatosis con patrón de herencia autosómico dominante, afecta a ambos sexos, es una enfermedad rara y se estima un caso cada 300 000 personas en las que predominan las ampollas al nacer y la hiperqueratosis subsiguiente. Objetivo: Describir el caso de un paciente con hiperqueratosis epidermolítica que representa una situación clínica infrecuente por su incidencia. Presentación de caso: Adolescente de 17 años, con lesiones de hiperqueratosis y presencia de escamas grandes de color oscuro, que se desprenden fácilmente en grandes colgajos epidérmicos, y que se acompaña de olor fétido. Conclusiones: Este caso constituye una ictiosis ampollosa de Siemens desde el punto de vista clínico, un subtipo de hiperqueratosis epidermolítica, aunque la histología solo confirmó este último diagnóstico.

Background: The Epidermolytic hyperkeratosis is a genodermatosis with pattern of inheritance dominant autosomal ,it affects equally to both sexes, it is a strange illness and he/she is considered a case each 300 000 people in those that the bladders prevail when being born and the subsequent hyperkeratosis. Objective: To describe the case of a patient with Epidermolytic hyperkeratosis that represents an uncommon clinical situation for their incidence. Case presentation: 17 year-old adolescent, with hyperkeratosis lesions and he/she witnesses of big flakes of dark color that come off easily in big epidermal torn pieces, and that he/she accompanies of fetid scent. Conclusions: This case constitutes an ICHTHYOSIS bullous of Siemens from the clinical point of view, a subtype of Epidermolytic hyperkeratosis, although the alone histology confirms this last one diagnostic.

Epidermolytic hyperkeratosis: a rare case.

A 6 month old girl presented with generalized hyperkeratosis, most marked over the flexures since birth. On the basis of the clinical& histopathologic findings, she was diagnosed as a case of epidermolytic hyperkeratosis .She was treated with retinoid therapy. Epidermolytic hyperkeratosis (EHK) is an uncommon form childhood keratinizing disorder. Early in life it is associated with generalized blistering and erythroderma. Later on, it produces rippled type of hyperkeratosis. The purpose of this report is to highlight the features of this rare case.

Analysis of mutations in two families with epidermolytic hyperkeratosis / 中华皮肤科杂志

Objective To identify gene mutations in two families with epidermolytic hyperkeratosis (EHK).Methods Clinical data were collected from two families with EHK.Peripheral blood was isolated from the probands and unaffected family members in the families as well as from 50 healthy controls.PCR was performed to amplify the encoding exons and flanking intron regions of KRT1 and KRT10 genes followed by direct DNA sequencing.Results Two mutations in the KRT10 gene,including a heterozygous acceptor splice site mutation in intron 4 (c.1030-2 A＞G) and a heterozygous missense mutation c.467 G＞A,were identified in the probands of both families,but absent in the unaffected family members or healthy controls.ConclusionThe splice site mutation c.1030-2 A＞G and missense mutation c.467 G＞A might be responsible for the phenotype of EHK in the two families.

Nevus epidérmico lineal con hiperqueratosis epidermolítica: descripción de caso / Linear epidermal nevus with epidermolytic hyperkeratosis case description

Introducción: El nevus epidérmico es una anomalía del desarrollo epidérmico que puede afectar cualquier parte del cuerpo, aunque se cita el predominio en las extremidades. Si bien esta entidad no es infrecuente, la presencia de hiperqueratosis epidermolítica en la biopsia cutánea es un hallazgo relativamente poco común, como lo demuestra la literatura consultada.Caso Clínico: Presentamos el caso de un paciente de sexo masculino de dos años de edad, con el diagnóstico de nevus epidérmico verrugoso lineal unilateral afectando el hemicuerpo izquierdo, con evidencias histopatológicas de hiperqueratosis epidermolítica. Discusión: El nevus epidérmico lineal unilateral es una forma rara de nevus epidérmico y también es inusual la presencia de hiperqeratosis epidermolítica. Se presenta generalmente dentro de los 5 primeros años de vida y las lesiones son intensamente pruriginosas. Estos nevos son frecuentemente refractarios al tratamiento tópico y la extirpación quirúrgica puede ser una opción para mejorar los síntomas.

Introduction: Epidermal nevus is an anomaly of epidermal development that can affect any part of the body, although usually reported in the extremities. Although it is not uncommon, the presence of epidermolytic hyperkeratosis on skin biopsy is a relatively uncommon finding in the literature. Case report: We report the case of a 2-year old male diagnosed with unilateral linear verrucous epidermal nevus of the left hemisphere with histopathological evidence of epidermolytic hyperkeratosis. Comments: Unilateral linear epidermal nevi are a rare form of epidermal nevus, and are also unusual in the presence of epidermolytic hyperkeratosis. They usually occur within the first 5 years of life and the lesions are intensely itchy. These nevi are often refractory to topical therapy and surgical removal may be an option to improve symptoms.

A Case of Combined Epidermolytic Hyperkeratosis and Porokeratosis Type of Epidermal Nevus / 대한피부과학회지

Epidermal nevus arises from the pluripotential germinative cells in the basal layer of the embryonic epidermis. Histologically, it has a distinctive feature of hyperkeratosis, papillomatosis and acanthosis with elongation of the rete ridges. Epidermal nevus also has other histological variations. We report a case of a 5-year-old male who presented with pruritic linear brownish scaly papules on the right thigh. The lesion showed histological features of combined epidermolytic hyperkeratosis and porokeratosis type of epidermal nevus.

A Case of Disseminated Epidermolytic Acanthoma / 대한피부과학회지

Epidermolytic acanthoma is an uncommon benign tumor characterized histologically by epidermolytic hyperkeratosis. Clinically, the tumor resembles a verruca or seborrheic keratosis and may occur in either isolated or disseminated forms. Herein, we present a case of a 46-year-old male who developed multiple seborrheic keratosis or verruca like papules on his trunk which showed epidermolytic hyperkeratosis upon microscopic examination. Following clinical and histological findings, the patient was diagnosed as having disseminated epidermolytic acanthoma.

A Case of Nevus Comedonicus with Epidermolytic Hyperkeratosis / 대한피부과학회지

A 34-year-old female patient presented multiple 1-2mm sized dark brown coloured keratin plugs, within dilated follicles on the lower extremities from the birth. Histopathological findings showed a wide and deep invagination of the epidermis filled with keratin plugs which is a typical feature of nevus comedonicus, and the presence of epidermolytic hyperkeratosis on the epidermis and follicular wall. On another area, histopathological findings showed the presence of hyperkeratosis, acanthosis and epidermolytic hyperkeratosis of the epidermis; there are common changes of systematized epidermal nevus. We herein report a case of nevus comedonicus with epidermolytic hyperkeratosis.

A Case of Incidental Epidermolytic Hyperkeratosis Occurring Normal Looking Skin Adjacent to Folliculitic Papules: In Veterans Who Participated in Vietnam War

On histological examination, an epidermolytic hyperkeratosis was observed adjacent to follicular papules on the back of a 53-year-old man. It has been reported that incidental epidermolytic hyperkeratosis occur either within various lesion (epidermal neoplasm, melanocytic neoplasm, scars, and inflammatory conditions) or in the normal skin adjacent to the lesion. This patient participated in the Vietnam War for 2 years, and had had contact with defoliants. He was treated for multiple peripheral neuropathies and cerebral infarcts. In keratinocytes, 2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD; Agent Orange) contained in defoliating agents is associated with altered patterns of keratinocyte differentiation. So, as a cause of incidental epidermolytic hyperkeratosis, defoliant contact could be suspected.

Etretinate Therapy of Epidermal Nevi

Two cases of epidermal nevi treated with systemic etretinate are presented. Case 1, a 21-year-old female, had been suffered from brownish verrucous papules and plaques on the left inguinal area, thigh, lower leg and dorsum of the foot since her first month of life; and case 2, a 4-year-old boy, had been suffered from brownish verrucous papular plaques on the left chest, axilla and back since birth. In both cases, there was no family history of similar disease. On histopathological examination, case 1 showed the findings of epidermolytic. hyperkeratosis but case 2 did not, with the exception of clumping of keratohyaline granules. In the treatment with systemic etretinate, we observed marked clinical improvement in case 1, but not in case 2. Any particular side effects of etretinate were not observed during treatment. We consider that etretinate therapy is useful in treating epidermal nevus with epidermolytic hyperkeratosis histopathologically.

A Case of Epidermolytic Keratosis Palmaris et Plantaris / 대한피부과학회지

Epidermolytic keratosis palmaris is a rare disease which shows clinical findings of Unna Thost keratoderma and histopathologic of epidermolytic hyperkeratosis. We report herein a case of epidermolytic keratosis palmaris et plantaris in a 16-month-old female baby. Light microscopy shows marked hyperkeratosis, large irregular keratohyalin granules, and large clear spaces in the granular and upper spinous layers. Eletron microscopic findings shows that the clear spaces are areas of cytoplasm filled with a fibrillar material and cellular organelles. Abnormal clumping of tonofilament and keratohyalin is also present.

A Case of Epidermolytic Hyperkeratosis / 대한피부과학회지

Epidermolytic hyperkeratosis, previously called bullous congenital ichthyosiform erythroderma is a dominantly inherited disorcler and usually manifested by blisters at or shortly after birth. We report a case of epidermolytic hyperkeratosis in 9 year old girl vrho developed generalized erythema &: easily eroded vesicles at birth. Later the skin lesions progresed to characteristic thick, grayish-dark brown verruform cais, affecting predominantly flexural and intertriginous areas. Fiistologic findings show typical granular degeneration.

Epidermolytic Hyperkeratosis Treated with Oral Vitamin A Palmitate / 대한피부과학회지

20-year-old patient presented with the episodes of generalized hyperkeratotic lesions with bullae since her early life, without family history. Histopathological examination by light and electron microscopes showed the characteristic features of epidermolytic hyperkeratosis. Primarily, she failed to respond to the treatment with propylene glycol. Vitamine A palmitate(A-Mulsin) per os appears to be a beneficial remedy for epidermolytic hyperkeratosis, although its availability is limited due to the side effects on a long term therapy. Repeated biopsies in the normal appearing lesions 2 months after treatment of vitarnin .A palmitate showed a substantial reduction of the horny layer on the light microscope and orderly arrangement of the tonofilaments, and properly formed keratohyaline granules on EM, but the underlying disorder of keratinization remained unchanged. Treattnent of 2 months with vitamin A was interrupted by side effects of nasal bleealing, chelitis and xerosis.