Somatic ATP2A2 mutation in a case of papular acantholytic dyskeratosis: mosaic Darier disease

Papular acantholytic dyskeratosis, also known as acantholytic dermatosis of the vulvocrural (or anogenital) area, is an uncommon eruption reported predominantly in women. This entity manifests with pruritic papules in the groin/anogenital area and less commonly on the chest. The pathobiology of papular acantholytic dyskeratosis is uncertain. A 62‐year‐old woman presented with multiple verrucous‐appearing lesions in the groin and on the chest showing acantholytic dyskeratosis on histopathology. Given histological similarity of these papular acantholytic dyskeratosis lesions to Darier disease due to inherited ATP2A2 mutation, we screened affected and normal tissue and peripheral blood in our patient for mutations in ATP2A2. We found an identical ATP2A2 p.706D>N mutation in multiple independent papular acantholytic dyskeratosis lesions that was not present in uninvolved skin or peripheral blood DNA. These findings establish somatic mosaicism of ATP2A2 mutations as a genetic cause for papular acantholytic dyskeratosis.     

Papular acantholytic dyskeratosis of the anogenital area with positive direct immunofluorescence results

Acantholytic dyskeratosis is a distinct histological pattern characterized by hyperkeratotic and parakeratotic epidermis with intraepidermal clefts harbouring acantholytic and dyskeratotic keratinocytes. This histopathological pattern is uncommon in dermatoses of the anogenital region. We report a 30-year-old woman who had numerous smooth whitish papules on the labia majora, perineum and perianal region, which coalesced into plaques in some areas. Microscopically, the lesions showed prominent suprabasal and intraspinous acantholysis with dyskeratotic keratinocytes. Direct immunofluorescence examination revealed intercellular Ig G and C(3) within the epidermis. We were unable to find a similar case of papular acantholytic dyskeratosis of the anogenital area with positive direct immunofluorescence findings reported in the literature, thus in this report, the clinicopathological features of a unique case are presented.     

Papular acantholytic dyskeratosis of the vulva

We describe an 11-year-old girl with a persistent pruritic papular eruption on the vulva. Clinically, the lesions consisted of whitish papules and erosions located on the inner aspect of the labia majora. There was no familial history of skin diseases. Histologically, a biopsy specimen showed difuse hyperkeratosis, parakeratosis, acantholysis throughout the thickness of the epidermis, and the presence of corps ronds. Those findings were consistent with a diagnosis of acantholytic dyskeratosis. At 3 years follow-up, only isolated hyperkeratotic, asymptomatic papules on the same location remained. The occurrence of this focal and sporadic, localized form of acantholytic dyskeratosis seems to be rare in the pediatric population, as we could find no other child with this entity reported in the literature.     

Papular acantholytic dyskeratosis of the vulva

We describe a 63-year-old woman with an asymptomatic papular eruption on the vulva. Clinically, the lesions showed multiple pin-head-sized whitish papules on the labia major. Histologically, the biopsy specimen showed acantholysis throughout the epidermis with the presence of dyskeratotic cells resembling corps ronds and grains, hyperkeratosis and parakeratosis. These clinical and histological findings were consistent with the diagnosis of papular acantholytic dyskeratosis of the vulva which is a rare disorder, first described in 1984.     

Disseminated papular acantholytic dyskeratosis

We present two cases of elderly women with clinically atypical transient disseminated papular eruption, showing suprabasal epidermal clefts with dyskeratosis and acantholysis. The clinical picture did not correspond to either Darier's disease, Hailey's disease or Graver's acantholysis. In spite of clinical similarity the cases differed in course and outcome. Overlapping dyskeratosis and acantholysis varied in different specimens. The case with transient acantholytic lesions of short duration showed much more pronounced dyskeratosis than the other in which several relapses occurred in a 4-year period. Such cases defying classification belong to the heterogeneous group of papular acantholytic dyskeratosis. (c) 1998 Elsevier Science B.V. All rights reserved     

Acantholytic dyskeratotic epidermal naevus localized unilaterally in the cutaneous and genital areas

A 38-year-old woman presented with unilateral lesions on the left side of the body and in the genital area. Clinically, the lesions showed a polymorphic pattern: brownish papules in the axilla, keratotic comedo-like papules on the hand and foot, and whitish papular plaques on the labia majora and anal canal. There was no family history of skin diseases. Histologically, cutaneous and mucosal specimens were characterized by acantholytic and dyskeratotic cells, corps ronds and grains in the parakeratotic zone, and by hyperkeratosis and parakeratosis. A diagnosis of epidermal naevus with acantholytic dyskeratosis was made.     

Linear epidermal nevus with acantholytic dyskeratosis in an infant

A 7-month-old boy came to use with flat papules and small erosions on the extensor aspect of his left forearm and a linear arrangement of verrucous papules on the dorsum of his left hand. Histological examination revealed hyperkeratosis, parakeratosis, irregular acanthosis, and marked acantholysis from suprabasal through upper epidermis. This is the first reported case of linear epidermal nevus with acantholytic dyskeratosis in Japan.     

A rare presentation of acantholytic dyskeratosis

We describe an elderly woman who presented with numerous papular, keratolic lesions on the scalp. Histology of a biopsy specimen revealed epidermal invaginations, with large keratotic plugs, at the sites of hair follicles. In addition, there was acantholytic epidermal cell separation at a suprabasal level, and a large number of corps ronds were present, above the split. It is likely that this case represents a rare presentation of acantholytic dyskeratosis. The relationship to other conditions which show acanlholysis and dyskeratosis histologically is discussed.     

Papular acantholytic dyskeratosis of the vulva

We describe two patients with unusual asymptomatic, papular lesions on the vulva, clinically resembling lichen planus, the histology of which revealed unexpected findings of suprabasilar clefting, acantholysis and dyskeratotic cells giving rise to corps ronds and grains together with hyperkeratosis and parakeratosis, features originally associated with a diagnosis of Darier's disease. Focal acantholytic dyskeratosis has been described in a wide variety of inflammatory and neoplastic processes including those involving mucous membranes and has been attributed various diagnostic labels. We feel that the findings in our patients are consistent with a diagnosis of papular acantholytic dyskeratosis of the vulva, a rare condition, which was first described in 1984.     

Intertriginöse akantholytische Dyskeratose Abortive Form eines Morbus Darier oder eigene klinische Entität?

A 69-year-old woman presented with widespread symmetrical papular lesions in submammary and inguinal areas. History revealed that the disease had only been present for a few years. A skin biopsy showed focal suprabasal acantholysis, dyskeratosis up to the horny layer and in part parakeratotic hyperkeratosis. The patient had no further evidence for Darier disease, Hailey-Hailey disease or pemphigus vegetans. In particular, characteristic lesions of Darier disease of hands and nails were absent. We found several reports in the literature describing similar skin lesions in intertriginous and genital areas with histological evidence of acantholytic dyskeratosis under various terms. This report discusses the difference between these cases and the differential diagnoses, in particular Darier disease. We propose to designate cases of intertriginous papulosis with histological proof of acantholytic dyskeratosis but without further evidence of Darier disease as intertriginous acantholytic dyskeratosis.     

Genital benign chronic pemphigus (Hailey-Hailey disease) presenting as condylomas.

BACKGROUND: Genital lesion sof benign chronic pemphigus (FBCP)(Hailey-Hailey disease) may present as verrucous papules. Genital warts and papular acantholytic dyskeratosis of the genitalia may be considered in the differential diagnosis. OBJECTIVE: Our purpose was to describe the clinical characteristics and histologic features of verrucous anogenital FBCP. METHODS: Six patients, five women and one man, with verrucous anogenital lesions of FBCP, initially diagnosed as warts, were examined and biopsy specimens were evaluated histologically. RESULTS: The lesions were located exclusively in the perineal and perianal regions with axillary involvement in one case. Family history was negative in three of the six cases. Histologic examination confirmed the diagnosis of FBCP but was significant for the absence of crusts and the presence of only minimal inflammation. CONCLUSION: Our cases and the literature are reviewed with the conclusion that all verrucoid genital lesions with the histologic characteristics of Hailey-Hailey disease may represent FBCP.     

Papulöse akantholytische Dyskeratose

Papular acantholytic dyskeratosis is a very rare skin disease, which shows a suprabasilar cleft with acantholytic and dyskeratotic cells, simulating the light microscopic picture of Darier disease. In this condition, the lesions are acquired without a genetic basis. We observed a 40-year-old woman with about 200 papules on the lower aspects of her legs; histological examination showed changes similar to Darier disease. Transmission electron microscopy showed a reduced number of desmosomes and perinuclear distribution of tonofilaments. The lesions were successfully treated with cryotherapy with spray technique.     

Grover病1例并文献复习

患者男,51岁。躯干及四肢丘疹、水疱及脓疱反复发生30余年,腹股沟角化性丘疹10余天。皮损组织病理检查见表皮局灶性棘层松解,直接免疫荧光阴性。诊断:暂时性棘层松解性皮肤病(Grover病)。并结合本例临床特点进行文献复习。     

Uncommon vascular naevi associated with focal acantholytic dyskeratosis

Cutis marmorata telangiectatica congenita and vascular twin naevi are rare vascular anomalies in which focal acantholytic dyskeratosis is usually not observed. We describe a 44-year-old-man who presented for evaluation of skin lesions that had been present since birth. Physical examination revealed anaemic macules adjacent to a naevus telangiectaticus on the chest. Naevus anaemicus was also seen on the shoulders, arms, and left leg. There was bluish-reddish reticulate marking of the skin and cutaneous atrophy. Shortening and hypoplasia of the left leg was observed. Histologic examination of two biopsy specimens revealed focal acantholytic dyskeratosis. In vivo confocal laser scanning microscopy showed dilated capillaries and vessels of the upper dermal plexus in the telangiectatic and decreased capillary blood flow in the anaemic skin sites. The findings were consistent with a diagnosis of cutis marmorata telangiectatica congenita, vascular twin naevi, and incidental focal acantholytic dyskeratosis. The particularities of the present case are the following: firstly, the association of two rare vascular anomalies to which the genetic concept of mosaicism can be applied; secondly, the occurrence of incidental focal acantholytic dyskeratosis in sites of vascular naevi.     

暂时性棘层松解性皮肤病

报告1例暂时性棘层松解性皮肤病。患者男，43岁。因驱干和四肢出现红斑、丘疹、水疱伴瘙痒1个月就诊。皮损组织病理检查见表皮局灶性棘层松解，直接和间接免疫光学检查均阴性，诊断为暂时性棘层松解性皮肤病（Crover病）。结合本例临床特点进行文献复习。     

Familial dyskeratotic comedone

INTRODUCTION: Familial dyskeratotic comedones is a rare affection of autosomal transmission and characterized by pseudo-comedone papules predominantly on the limbs. We report a new familial case characterized by its clinical and histological profile.CASE REPORT: A 6 year-old boy presented with a papular, pseudo-comedone eruption that had appeared shortly after birth and had progressively extended symmetrically to both legs. The child's father complained of a similar eruption since childhood. Histological examination of the papules revealed a pseudo-follicular invagination, obstructed by keratin and associated with areas of focal dyskeratosis. Treatment with local retinoids was ineffective.DISCUSSION: Since it is often asymptomatic, the prevalence of dyskeratosis comedones is probably underestimated. A review of the literature on the preceding observations is presented. The dermatites that would represent differential diagnoses because of the presence of comedone-like lesions and/or histological dyskeratosis are discussed.     

Transient acantholytic dermatosis (Grover's disease) in a renal transplant patient

Grover's disease ("transient acantholytic dermatosis") is a transient dermatosis of unknown cause manifesting clinically as a papular skin eruption located usually on the anterior chest and abdomen and histologically with dyskeratosis and acantholysis. Grover's disease has occasionally been reported in patients with chronic renal failure, HIV infection, hematological malignancies and bone-marrow allotransplantation. We report herein a new case of Grover's disease that developed in a renal transplant patient. To the best of our knowledge, this is the first observation of Grover's disease developing in the setting of solid organ transplantation.     

Congenital acantholytic dyskeratotic epidermal naevus following Blaschko's lines versus segmental Darier's disease

A Japanese newborn male with an unremarkable family history presented at birth with verrucous papules on the left side of the trunk and limbs, distributed along Blaschko's lines. Histological examination showed mild acantholytic dyskeratosis, consistent with Darier's disease; however, search for mutations of the SERCA gene, performed on DNA extracted from cells from involved and uninvolved skin and peripheral blood proved negative. The absence of detectable SERCA mutations did not allow confirmation of the diagnosis of (segmental) Darier's disease, and a tentative diagnosis of congenital acantholytic dyskeratotic epidermal nevus was considered. The relationship between the two conditions is briefly discussed.