Familial dyskeratotic comedones

Familial dyskeratotic comedones (FDC) is a rare autosomal dominant inherited condition, characterized by widespread, symmetrically scattered, comedone-like, hyperkeratotic papules, which are cosmetically unappealing. These lesions appear around puberty and show a predilection to involve the trunk, arms and face. The lesions are asymptomatic and gradually worsen with time. Histology shows invagination of the epidermis with a lamellar keratinous plug and focal evidence of dyskeratosis. This condition is generally refractory to therapy. We report here two cases with this rare disorder who had a strong familial history of the same disorder.     

Dowling-Degos disease--a heat aggravated variant

A 22-year-old woman presented with a 5-year history of a micropapular eruption localized to the flexor aspect of her limbs as well as persistent reticulate pigmentation of her neck and upper chest resembling Darier's disease. The eruption was associated with pruritus that was precipitated by heat and was worse in summer. The axillae, groins and inframammary areas had multiple papules but lacked reticulate pigmentation. Multiple biopsies showed an epidermis with club- and antler-like rete ridges but no acantholysis or dyskeratosis. This distinct clinical presentation may represent an unusual heat aggravated variant of Dowling-Degos disease that clinically shares features with Darier's disease and transient acantholytic dermatosis.     

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 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.     

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.     

Persistent pruritic papules and plaques associated with adult‐onset Still's disease: Report of six cases

Typical skin rash, which appears and disappears along with respective rise and fall of fever, is well‐known, and included as one of the major criteria of adult‐onset Still's disease (AOSD) (Yamaguchi's criteria). In addition, various skin lesions are occasionally observed in association with AOSD. Persistent pruritic eruptions present with some clinical features, such as urticarial erythema, flagellate erythema, erythematous, slightly scaly or crusted papules, and/or plaques on the trunk and extremities. These lesions show unique histological features such as dyskeratosis with a peculiar, distinctive distribution in the upper epidermis and cornified layers with focal hyperkeratosis. We describe herein six cases of AOSD, which presented with skin lesions of persistent pruritic papules and plaques. All six cases were female, and three of them were elderly women. The patients presented with linear erythematous streaks, scaly erythema, keratotic papules, infiltrative plaques and irregular coalesced erythemas. By contrast, histological features were characteristic, and dyskeratotic cells were found in the horny layers as well as in the upper layers of the epidermis. Persistent pruritic eruption is an important cutaneous sign for the diagnosis of AOSD.     

Acantholytic dermatosis localized to genitalia and crural areas of male patients: A report of three cases

A series of 3 cases of acantholytic dermatosis localized to the male genitalia and perineal area with distinct clinical and histological features is presented. These patients did not have a family history of similar disorders and had no evidence of rash elsewhere. Clinically, the eruption was characterized by multiple discrete papules or macerated patches involving the genitalia and the perineum. Histologically, the acantholytic dermatosis had features that resembled both Hailey-Hailey disease and Darier's disease. Similar clinical and histological findings have been reported in females. To the best of our knowledge, this is the first report of these lesions described confined to the genital and perineal areas in male patients. We agree with other authors that this condition may represent a distinct acantholytic eruption in the perineal area that should be distinguished from other generalized blistering acantholytic dyskeratotic disorders dial may also involve the genitalia.     

Persistent pruritic papules and plaques: a characteristic histopathologic presentation seen in a subset of patients with adult‐onset and juvenile Still's disease

Background: ‘Persistent pruritic papules and plaques' of Still's disease represents a recently described eruption seen in a subset of patients. Most cases reported in the literature to date have been associated with adult‐onset Still's disease. Methods: We present the clinical and histopathologic examinations of three female patients ranging in age from 15 to 54 years. Results: Our three patients each presented with clinical findings consistent with Still's disease. The youngest patient suffered from the juvenile form of Still's disease (systemic‐onset juvenile rheumatoid arthritis). Each patient had a persistent, pruritic eruption with histopathologic findings of dyskeratosis confined to the upper layers of the epidermis as well as a sparse superficial dermal infiltrate containing scattered neutrophils. Conclusions: These cases confirm the characteristic clinical and histopathologic findings of ‘persistent papules and plaques of Still's disease’ and show the potential for this eruption in both the adult and juvenile age groups. Fortna RR, Gudjonsson JE, Seidel G, DiCostanzo D, Jacobson M, Kopelman M, Patel RM. Persistent pruritic papules and plaques: a characteristic histopathologic presentation seen in a subset of patients with adult‐onset and juvenile Still's disease.     

毛囊角化病样天疱疮1例

报告1例毛囊角化病样天疱疮，患者男，63岁，胸部和腋窝起红色丘疹，水疱及棕红色湿疹样斑块1年半，组织病理检查显示毛囊角化病样表现，有棘层松解和大量角化不良细胞，间接及直接免疫荧光示表皮角质形成细胞间有IgG，及C3沉积，确诊为天疱疮。     

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.     

Eruptive pseudoangiomatosis

Eruptive pseudoangiomatosis (EPA) is a rare, self-limiting exanthem, which is known to occur primarily in children. It is characterized by an eruption of distinctive erythematous angioma-like papules often surrounded by a pale halo, with histological findings distinct from that of true angiomas. We describe three women with angioma-like papules. The biopsy specimens from them showed a unique histological appearance consisting of dilated dermal blood vessels with plump endothelial cell and perivascular lymphocytes. On the basis of the clinical and histological findings, we present the adult cases of eruptive pseudoangiomatosis and their etiology.     

Papular acantholytic dyskeratosis of the genitalia

A 32-year-old man presented with multiple papules on the pubic area for 5 months. There were no subjective symptoms. We could not find any clues for predisposing factors. Pathological examination of the excised papules revealed marked acantholysis and dyskeratosis in the epidermis. The lesions persisted for 5 months after the pathological examination. We consider the present case to be similar to that of Chorzelski et al., papular acantholytic dyskeratosis of the vulva, reported in 1984. We would like to propose this case as papular acantholytic dyskeratosis of the genitalia.     

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.     

Keratosis lichenoides chronica: report of a new case with partial response to PUVA therapy

Keratosis lichenoides chronica is a rare disorder characterized by a distinctive seborrheic dermatitis-like facial eruption together with development of asymptomatic verrucosities on the limbs and the trunk, with a partially linear distribution. We report a case of a 35-year-old Syrian woman who presented with keratotic plaques and papules of the limbs for several years, and a seborrheic dermatitis-like facial eruption. A diagnosis of keratosis lichenoides chronica was clinically and histologically. Treatment with isotretinoin was without benefit. She had partial response to PUVA.     

Prurigo pigmentosa successfully treated with low-dose isotretinoin

BACKGROUND/AIMS: Prurigo pigmentosa (PP) is an uncommon inflammatory disease with pruritic reddish papules, papulovesicules or vesicules that are symmetrically localized on the trunk and nape, accompanied by reticular hyperpigmentation. Currently available therapeutic options seem somewhat unsatisfying. Herein, we report an 18-year-old female with PP successfully treated with low-dose isotretinoin. METHODS: The patient presented with a symmetrical pruritic eruption on the lateral sides of her trunk with erythematous papules on a hyperpigmented background. Based on the typical clinical and associated histological findings, the patient was diagnosed as PP and a treatment with low-dose isotretinoin 0.3 mg/kg/day (20 mg/day) was started. RESULTS: After a total of 3 months of 20 mg/day isotretinoin therapy, all erythematous macules and papules resolved and the residual pigmentation had almost disappeared. CONCLUSION: Low-dose isotretinoin is not only adequate for the improvement of erythematous lesions, it also helps resolve the reticular hyperpigmentation of PP. Further studies are needed to observe the efficacy of isotretinoin in the treatment of PP.     

Eruptive pseudoangiomatosis in an adult renal transplant recipient

BACKGROUND: In 1969, Cherry et al. described four children with acute onset angioma-like papules with spontaneous regression during an acute viral infection. Similar cases, called eruptive pseudoangiomatosis, have been reported since and considered to be a viral exanthema. We observed a similar eruption in a 48-year-old male kidney transplant recipient. CASE REPORT: One month after kidney transplantation, the patient rapidly developed macules and papules on the trunk. He had unexplained fever 15 days before the eruption. A biopsy specimen revealed dermal blood vessels surrounded by lymphoid infiltrate. Serology tests were unable to identify any virus. The lesions resolved spontaneously within 15 days. DISCUSSION: In our patient, eruptive pseudoangiomatosis was diagnosed on the basis of the clinical and histological features and the disease course. This case demonstrates that the entity is not limited to children. Further cases should be studied to determine the precise pathogenics of this uncommon entity.     

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。     

Lichen planus and acne provoked by gold.

A 58-year-old man with rheumatoid arthritis developed lichen planus during treatment with gold. Four months after cessation of treatment, a severe acne with comedones, papules, pustules, and small cystic elements broke out. No connection could be demonstrated between the eruption and other drugs or chemicals. Acne provoked by gold seems not to have been described elsewhere. The case history confirms that gold treatment, even in the same patient, can give rise to a wide range of skin disturbances, which in many cases do not break out until long after the drug has been withdrawn.     

Subcutaneous xanthomatosis

We describe a 33-year-old man with an unusual epidermal naevus that followed the lines of Blaschko. There were filiform hyperkeratoses, large cutaneous horns and lesions that resembled giant comedones and linear hyperkeratotic plaques. All of these lesions showed acantholysis without dyskeratosis. As the disorder is characterized by multiple small or large horn-like processes, we propose the term 'naevus corniculatus'.