ABSTRACT
@#Introduction: Erythrokeratodermia variabilis et progressiva (EKVP) is a rare, usually autosomal dominant disorder characterized by co-existence of erythematous to hyperpigmented scaly plaques and stationary or migratory patches symmetrically distributed on the face, buttocks and extremities. Case summary: This report describes an 8-month-old Filipino female infant who initially presented at 13 days old with erythematous scaly patches on the scalp, periorbital, perioral, and genital areas. These patches progressed to multiple erythematous plaques with well-defined erythematous to hyperpigmented border, some topped with hemorrhagic and yellowish crusts and scales on the scalp, face, neck, upper and lower extremities, genital and gluteal area. Histologic examination of the skin showed dense aggregates of neutrophils in the stratum corneum, parakeratosis, mild spongiosis, and irregular acanthosis. There were focal areas of hypogranulosis underneath the areas of parakeratosis; however, other areas showed normal granular cell layer. The dermis showed moderate superficial perivascular lymphohistiocytic cell infiltrates with melanophages. Histopathologic changes were nonspecific but may be consistent with EKVP. Patient was initially treated with IV antibiotics; however lesions continued to progress. She was then started on oral acitretin, resulting to improvement of lesions. Conclusion: A Filipino girl with erythrokeratodermia variabilis et progressiva is reported. The knowledge of this disease and its treatment will allow clinicians to promptly initiate treatment and monitor treatment side effects
Subject(s)
Erythrokeratodermia VariabilisABSTRACT
El síndrome de queratitis, ictiosis y sordera (KID) es una displasia ectodérmica poco frecuente que se transmite con un patrón de herencia autosómica dominante, sin embargo la mayoría de los casos son esporádicos. Se debe principalmente a mutaciones del gen GJB2, que codifica la conexina 26. Se caracteriza por presentar eritroqueratodermia, sordera neurosensorial, queratitis vascularizante, hiperqueratosis palmo-plantar y alopecia. Otras manifestaciones son hipohidrosis, distrofia ungueal, anomalías dentarias, susceptibilidad a infecciones y riesgo aumentado de desarrollar carcinoma de células escamosas. En el presente trabajo se realiza una revisón bibliográfica de este cuadro, enfatizando las características clínicas, métodos diagnósticos y tratamientos disponibles hasta la actualidad.
Syndrome keratitis, ichthyosis and deafness (KID) is a rare ectodermal dysplasia with autosomal dominant inheritance pattern, and sporadic presentation in most cases. It is mainly due to mutation in the GJB2 gene encoding connexin 26. It is characterized by erythrokeratodermia, sensorineural deafness, vascularizing keratitis, alopecia and palmoplantar hyperkeratosis. Other manifestations are hypohidrosis, nail dystrophy, dental anomalies, susceptibility to infections and risk of squamous cell carcinoma. In this paper a bibliographic revison of KID syndrome is made, emphasizing the clinical features, diagnosis and treatment methods available to date.
Subject(s)
Humans , Pregnancy , Infant, Newborn , Infant , Deafness , Ichthyosis , Keratitis , Alopecia , Ectodermal Dysplasia , Erythrokeratodermia Variabilis , Keratoderma, PalmoplantarABSTRACT
Erythrokeratodermia variabilis is an autosomal-dominant inherited disease associated with a mutation in gap junction beta (GJB) 3 and 4. It shows two characteristic features: migratory and irregularly shaped erythematous lesions usually accompanied by a burning sensation and fixed, symmetrically located hyperkeratotic plaques. A 6-year-old boy had developed erythematous scaly patches with a geographic pattern on the entire body at age 1, and the lesions had migrated with an irregular pattern. Accompanying hyperkeratotic plaque developed on the trunk and both legs when he was 4 years old. As he grew older, the erythematous patches progressively disappeared and the hyperkeratotic plaque dominantly remained. His family history was unidentifiable because he was adopted at birth. Pathologic findings showed hyperkeratosis and superficial perivascular inflammation. Based on the clinical and pathologic features, we diagnosed erythrokeratodermia variabilis in this patient. Herein, we report a case of erythrokeratodermia variabilis showing gradual disappearance of erythema.
Subject(s)
Child , Humans , Male , Burns , Erythema , Erythrokeratodermia Variabilis , Gap Junctions , Inflammation , Leg , Parturition , SensationABSTRACT
Erythrokeratodermia variabilis is a rare genodermatosis characterized by the coexistence of randomly occurring, transient, erythematous patches and hyperkeratosis of the skin. A 25-year-old Uzbekistanian female with congenital deaf-mutism presented with well demarcated geographic hyperkeratotic patches and bizarre erythema on the whole body surface except the face, hands and feet from birth. The histopathological examination revealed marked hyperkeratosis, moderate acanthosis in the epidermis and vascular dilatation with a perivascular infiltration of inflammatory cells in the upper dermis. Herein we report on a rare case of erythrokeratodermia variabilis with congenital deaf-mutism which was rapidly improved by administering acitretin.
Subject(s)
Adult , Female , Humans , Acitretin , Deafness , Dermis , Dilatation , Epidermis , Erythema , Erythrokeratodermia Variabilis , Foot , Hand , Parturition , SkinABSTRACT
We describe a 8-year-old girl with erythrokeratodermia varibilis (EKV). This diagnosis was supported by erythematous, configurate patches over the entire body. Their size, shape and location varyed with enviromental factors and emotional state. In addition, well defined brownish, hyperkeratotic plaques were scattered over the trunk and extremities. Also, this patient had alopecia universalis, which is not typical of EKV. Etretinate therapy resulted in an almost complete clinical clearing of the plaques; however, her alopecia universalis and erythematous lesions were not affected.