Case of punctate palmoplantar keratoderma type I treated with combination of low-dose oral acitretin and topical salicylic acid and steroid.

Palmoplantar keratodermas (PPK) are heterogeneous disorders characterized by abnormal keratinization. Especially, punctate PPK (PPPK), one of the subtypes of hereditary PPK, is a rare punctate keratoderma characterized by tiny "raindrop" keratoses having a tendency to coalesce on the edge of soles, which are exposed to sustained pressure. If typical punctate lesions are confined to the palms and soles and the patient has a family history and late onset, it can be considered as PPPK type I (PPKP1), also called Buschke-Fisher-Brauer disease. The exact etiology of PPPK has not been fully understood. Furthermore, no standardized treatment for PPPK has been established and treatment options are limited. Above all, traditional systemic retinoids have been used in several cases, but dose-related adverse effects are common. Therefore, combination of low-dose systemic retinoids and adjuvant topical therapy can be an alternative treatment option for PPPK. Herein, we report a case of PPKP1 treated with combination of low-dose oral acitretin (10 mg/day) and topical salicylic acid and steroid. Despite low capacity, low-dose acitretin showed excellent regression of the lesions by combined use of topical ointments. The supplementary topical therapy may be useful in reducing the dose of systemic retinoids and preventing potential toxicity.

Photoletter to the editor: Lamellar ichthyosis and arthrogryposis in a premature neonate.

Lamellar ichthyosis is a rare congenital disorder characterized by collodion membrane at birth and facial anomalies (eclabium and ectropion). The major underlying genetic defect is in TGM1, with mutations of this gene found in 50% of patients. An early diagnosis is fundamental in view of establishing a specific treatment due to the severity of the disease. We report a case of severe lamellar ichthyosis and arthrogryposis, without the typical facial presentation, negative for TGM1 mutations. The clinical improvement was achieved only after treatment with oral retinoids, highlighting the importance of early diagnosis and prompt administration of a specific therapy.

Enfermedad de Darier tratada con acitretina oral / Dariers disease treated with oral acitretin

La enfermedad de Darier (ED) descrita por Darier y White en 1889, es un trastorno autosómico dominante de la queratinización, causada por una mutación del gen ATP2A2, localizado en el cromosoma 12 que codifica para la bomba de calcio ATP-asa de tipo 2 del retículo sarco-endoplásmico (SERCA-2), que conduce a una queratinización anormal (disqueratosis) y pérdida de la adhesión intercelular de los queratinocitos (acantolisis), con la consecuente formación de hendiduras suprabasales. Se caracteriza por alteraciones de la queratinización de la epidermis, uñas y mucosas. Presentamos el caso de un paciente masculino de 21 años, con lesiones cutáneas e histológicas características de (ED), quien realizó tratamiento con acitretina oral a una dosis de 30 mg al día, con respuesta favorable. Se plantea una alternativa terapéutica con retinoides orales para las lesiones crónicas y resistentes.(AU)

Dariers disease (DD) described by Darier and White in 1889 is an autosomic dominant disorder of keratinization, caused by a mutation of gen ATP2A2, located in the chromosome 12 encoding for calcium ATPase pump of sarcoplasmic reticulum type 2 (SERCA-2) leading to abnormal keratinization (dyskeratosis) and loss of intercellular adhesion of keratinocytes (acantholysis), with the consequent formation of suprabasal clefts. Characterized for abnormal keratinization in the epidermis, nails and mucosae. We present the case of a 21-year-old, male patient, with clinically and histologically confirmed (DD) treated with oral acitretin 30 mg for day with good response. We recommend an optional therapeutic treatment for chronic, itchy, recalcitrant lesions with oral retinoids.(AU)

Enfermedad de Darier tratada con acitretina oral / Darier's disease treated with oral acitretin

La enfermedad de Darier (ED) descrita por Darier y White en 1889, es un trastorno autosómico dominante de la queratinización, causada por una mutación del gen ATP2A2, localizado en el cromosoma 12 que codifica para la bomba de calcio ATP-asa de tipo 2 del retículo sarco-endoplásmico (SERCA-2), que conduce a una queratinización anormal (disqueratosis) y pérdida de la adhesión intercelular de los queratinocitos (acantolisis), con la consecuente formación de hendiduras suprabasales. Se caracteriza por alteraciones de la queratinización de la epidermis, uñas y mucosas. Presentamos el caso de un paciente masculino de 21 años, con lesiones cutáneas e histológicas características de (ED), quien realizó tratamiento con acitretina oral a una dosis de 30 mg al día, con respuesta favorable. Se plantea una alternativa terapéutica con retinoides orales para las lesiones crónicas y resistentes.

Darier's disease (DD) described by Darier and White in 1889 is an autosomic dominant disorder of keratinization, caused by a mutation of gen ATP2A2, located in the chromosome 12 encoding for calcium ATPase pump of sarcoplasmic reticulum type 2 (SERCA-2) leading to abnormal keratinization (dyskeratosis) and loss of intercellular adhesion of keratinocytes (acantholysis), with the consequent formation of suprabasal clefts. Characterized for abnormal keratinization in the epidermis, nails and mucosae. We present the case of a 21-year-old, male patient, with clinically and histologically confirmed (DD) treated with oral acitretin 30 mg for day with good response. We recommend an optional therapeutic treatment for chronic, itchy, recalcitrant lesions with oral retinoids.

Combined treatment for cutaneous Rosai-Dorfman disease: a report of 2 cases.

We report 2 cases of cutaneous Rosai-Dorfman disease (CRDD). One was a 46-year-old Chinese woman who presented with a 10-year history of multiple papules and nodules on the left cheek. Another one was a 57-year-old Chinese woman who presented with a 7-month history of erythematous pruritic plaque on the Dorsum nasi. Their lesions consisted of proliferative large histiocytes occasionally showing emperipolesis. Immunohistochemistry showed these histiocytes were positive for CD68 and S-100, but negative for CD1a. A diagnosis of CRDD was made. Their lesions were improved after intralesional treatment with Compound Betamethasone, interferon and acitretin. To our knowledge, we for the first time reported the application of intralesional Compound Betamethasone and Lidocaine, intramuscular injection of interferon, and oral acitretin in the treatment of CRDD, and favorable outcome was achieved without recurrence over a 1-year follow-up period.