ABSTRACT
Darier's disease, also known as keratosis follicularis, dyskeratosis follicularis or Darier-White disease, is a rare, inherited, acantholytic disorder caused by mutation in ATP2A2 gene, which manifests with hyperkeratotic lesions of variable severity. It typically occurs in young age and presents with itching and greasy appearance. The lesions are persistent and disease follows a chronic course with protean prognosis. Extracutaneous involvement may occur in mucosa, nail, eye and salivary gland.We report a case of Darier's disease of teenage onset, and moderate severity with palmoplantar, mucosal and nail involvement.
ABSTRACT
La enfermedad de Darier (ED) o disqueratosis folicular fue descripta por Darier y White en 1889. Se trata de una alteración de herencia autosómica dominante, causada por la mutación del gen ATP2A2. Esta mutación interfiere en los procesos de diferenciación y crecimiento celular calcio dependientes. El diagnóstico es clínico e histopatológico. Se manifiesta con pápulas y costras eritematoparduzcas queratósicas, pruriginosas, localizadas principalmente en áreas seborreicas, pápulas blanquecinas en mucosa oral y alteraciones ungueales. Presentamos dos casos de ED en dos hermanos y realizamos una revisión de esta entidad (AU)
Darier's disease (DD) or keratosis follicularis was described by Darier and White in 1889. It is an autosomic dominant inheritance disorder caused by mutation of ATP2A2 gene. This mutation interferes in the processes of cell differentiation and calcium dependent growth. Diagnosis is clinical and histopathological. Clinical features include itchy keratotic papules and crusts, located mainly on seborrheic areas, whitish papules on oral mucosa and nail changes. Two cases of DD in two brothers is reported and a review of this entity is made (AU)
Subject(s)
Humans , Male , Female , Middle Aged , Acitretin/therapeutic use , Keratolytic Agents/therapeutic use , Darier Disease/pathology , Darier Disease/drug therapyABSTRACT
La enfermedad de Darier (o disqueratosis folicular) es una genodermatosis de herencia autosómica dominante poco frecuente,en la que existe una mutación del gen que codifica la enzima calcio ATPasa del retículo endoplásmico, que se expresa en piel y cerebro. Se caracteriza por la pérdida de adhesión entre los queratinocitos epidérmicos suprabasales y una queratinización anormal en piel, uñas y mucosas. Clínicamente se manifiesta con pápulas eritemato parduzcas queratósicas localizadas en áreas seborreicas, pápulas y hoyuelos palmo plantares, pápulas blanquecinas en mucosa oral y alteraciones ungueales. A nivel histopatológico, se observa disqueratosis acantolítica, hendiduras suprabasales, cuerpos redondos y granos. Pueden asociarse a esta entidad trastornos auditivos y neuropsiquiátricos, principalmente en pacientes con antecedentes familiares de enfermedad de Darier. Presentamos 4 pacientes, 2 masculinos y 2 femeninos, de entre 30 y 61 años de edad, que presentaron hallazgos clínicos e histopatológicos de enfermedad de Darier, desde la segunda década de la vida. Sólo uno refirió antecedentes familiares de esta entidad. Una paciente presentó un síndrome depresivo durante su seguimiento. Tres de ellos realizaron tratamientos con retinoides tópicos y sólo uno con retinoides sistémicos con mejoría parcial en todos los casos.
Darier Disease or keratosis follicularis is an uncommon genodermatosis inherited in an autosomal dominant pattern, characterized by mutations in the gene ATP2A2 which encodes the reticulum endoplasmic enzyme calcium ATPase expressed in skin and brain. Clinical features of this disorder are: keratotic papules located in seborrheic areas, palmoplantar papules and pits, white papules on oral mucosa and nail abnormalities. There may be an association with hearing and neuropsychiatric disorders, especially in patients with a family history of Darier disease. This disorder is histologically characterized by loss of adhesion between the suprabasal epidermal keratinocytes (suprabasal clefts), aberrant epidermal keratinization (focal acantholitic dyskeratosis), round bodies and grains. We present 4 patients, 2 male and 2 female, aged between 30 and 61 years old, who had clinical and histopathologic findings of Dariers disease, since the second decade of their lives. Just one of them referred family history of this condition. One patient presented a depressive syndrome during his follow-up. Three of them were treated with topical retinoids and the other one with systemic retinoids with partial improvement in all of them.
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Darier Disease , Keratosis , SkinABSTRACT
Objective To observe the efficacy of 810 nm diode laser therapy for keratosis follicularis.Methods A total of forty-eight patients with keratosis follicularis were treated by 810 nm diode laser,energy range from 9 to 10 J/cm2,frequency 10 Hz,pulse width 400 ms.Treatments were carried out in three times at 8-week intervals,and clinical efficacy was evaluated after third treatment (6 months).Results The total effective rates of keratosis follicularis were 91.7％.With the increase of the number the curative effect were obviously improved.The treatment effective rate was 52.1％ (25/48) for the first time.The treatment effective rate was 75.0％ (36/48) for the second time.And the third time was 91.7％ (44/48).the patients skin texture was obviously improved in the six-month of follow-up except adverse reaction appeared in five patients in the short term.Conclusions 810 nm diode laser is safe and effective for keratosis follicularis.
ABSTRACT
Keratosis follicularis squamosa (Dohi) is a keratinizing disorder which is a separate clinical entity from keratosis follicularis (Darier's disease). It occurs predominantly in Japanese and appears clinically as scaly patches of 3~10 mm in diameter with brownish follicular plugs in the center, which are symmetrically scattered on the trunks and thighs. Scales on the margin, slightly detached from the underlying epidermis, look like 'lotus leaves on the water'. The efficacy of minocycline has already been confirmed in many cases. In this report, we describe a case of using 1% of pimecrolimus cream for keratosis follicularis squamosa (Dohi) instead of minocycline.
Subject(s)
Humans , Asian People , Darier Disease , Epidermis , Keratins , Keratosis , Minocycline , Tacrolimus , Thigh , Weights and MeasuresABSTRACT
Keratosis follicularis spinulosa decalvans (KFSD), is a rare follicular syndrome associated with widespread keratosis pilaris and progressive scarring alopecia. This genodermatoses often starts at infancy or early childhood with an X-linked mode of inheritance. Males are predominantly affected and females frequently show no disease or only a mild form. We describe this not so common entity of KFSD in a nine year old female child.
ABSTRACT
Darier's disease is a genetic disorder of keratinization with autosomal dominant inheritance. Its appearance is usually in the form of greasy, crusted, keratotic yellow-brown papules and plaques found particularly on seborrheic areas of the body. However, there are some clinical variants showing atypical skin lesions. Here we report an unusual case of Darier's disease, which mainly showed prominent comedonal papules over the face.
Subject(s)
Darier Disease , Keratins , Skin , WillsABSTRACT
Queratose folicular espinulosa decalvante é uma genodermatose rara, ligada ao X, caracterizada por hiperqueratose folicular, fotofobia, alopécia cicatricial do couro cabeludo e supercílios. Descreve-se o caso de paciente do sexo feminino, de 25 anos, com quadro clínico e evolução típicos desta síndrome.
Keratosis follicularis spinulosa decalvans is a rare X-linked genodermatosis, characterized by follicular hyperkeratosis, photophobia, scarring alopecia of the scalp and eyebrows. A case of a 25 yearold female with typical clinical picture and progression of this syndrome is described.
Subject(s)
Adult , Female , Humans , Alopecia/complications , Alopecia/pathology , Darier Disease/complications , Darier Disease/pathologyABSTRACT
Keratosis follicularis squamosa(Dohi) is an acquired keratinizing disorder , which is particularly common among Japanese and rarely reported in other countries . It is characterized by multiple small brownish atrophic patches with follicular plug and collarette scales on the trunk and thighs . The scaly patches, which look like lotus leaves on the water as described by Dohi in the first report, is very characteristic. We report a case of keratosis follicularis squamosa(Dohi) in a 39-year-old woman, who showed a clearance of the skin lesion after 4-week minocycline administration.
Subject(s)
Adult , Female , Humans , Asian People , Darier Disease , Keratosis , Lotus , Minocycline , Skin , Thigh , Water , Weights and MeasuresABSTRACT
Keratosis follicularis squamosa (Dohi) is a rare aquired keratinizing disorder, which is particularly common among Asians, including Japanese and Chinese. We report a case of keratosis follicularis squamosa (Dohi) in a 54-year-old woman, who had multiple dark brownish atrophic plaques with collarette scales on the buttock and thigh symmetrically. The biopsy specimen showed a dilated hair follicle with keratotic plugging and epidermal hyperkeratosis associated with slight parakeratosis. Gram positive cocci were demonstrated in the dilated hair follicle and horny layer. After 4 weeks of treatment with minocycline, the lesion showed a marked improvement.
Subject(s)
Female , Humans , Middle Aged , Asian People , Biopsy , Buttocks , Darier Disease , Gram-Positive Cocci , Hair Follicle , Keratosis , Minocycline , Parakeratosis , Thigh , Weights and MeasuresABSTRACT
Keratosis follicularis and familial benign pemphigus is an autosomal dominant inherited disease. Keratosis follicularis is characterized by keratotic papules predominantly on the seborrheic areas and familial benign pemphigus, recurrent bullous and vesicular dermatitis on the opposing surfaces. The differential diagnosis of the two diseases with histopathological findings is difficult and still in confusion. We present a case of a 23-year-old woman who had plaques composed of keratotic papules on the anterior shin areas and oozing crusted patches on the buttocks and calves which had some resemblance to the clinical features of familial benign pemphigus. The histological features of the former were consistent with keratosis follicularis, whereas that of the latter was characteristic of familial benign pernphigus.
Subject(s)
Female , Humans , Young Adult , Buttocks , Darier Disease , Dermatitis , Diagnosis, Differential , Keratosis , PemphigusABSTRACT
Unilateral keratosis follicularis is considered a localized variant of Darier's disease and should be included in the differential diagnosis of diseases with zosteriform keratotic eruptions. It is characterized by the unilateral linear lesions in multiple locations, increased irritation by sweating, lack of solar aggravation, and negative family history. Histopathologic findings reveal acantholytic dyskeratosis similar to a generalized Darier's disease. We report a case of unilateral keratosis follicularis in a 68-year-old man, who presented with unilateral flesh-colored keratotic papules on the left axilla and inguinal area. He was effectively treated with oral 13-cis-retinoid acid (isotretinoin).
Subject(s)
Aged , Humans , Axilla , Darier Disease , Diagnosis, Differential , Keratosis , Sweat , SweatingABSTRACT
Unilateral keratosis fotlicularis has the same histological features of classic Darier's diseases and is considered to be a localized variant of Darier's disease. Unlike classic Darier's disease, it is not related to family history but with a later age of onset, unilateral and linear lesions. Lack of solar aggravation and increased irritation from sweating also characterize this disease. A 45-year-old female presented with scaly follicular papules in a linear distribution limited to one side of her lower extremity. There was no family history or other signs of Darier's disease elsewhere in the body. Histopathological features were typical of acantholytic dyskeratosis. The condition was aggravated during the summer and regressed with residual pigmentation after topical application of corticosteroid and tretinoin.