Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.

Ablepharon macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are rare congenital ectodermal dysplasias characterized by similar clinical features. To establish the genetic basis of AMS and BSS, we performed extensive clinical phenotyping, whole exome and candidate gene sequencing, and functional validations. We identified a recurrent de novo mutation in TWIST2 in seven independent AMS-affected families, as well as another recurrent de novo mutation affecting the same amino acid in ten independent BSS-affected families.

Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

Background: Inherited ichthyoses belong to a large, clinically and etiologically heterogeneous group of mendelian disorders of cornification, typically involving the entire integument. Over the recent years, much progress has been made defining their molecular causes. However, there is no internationally accepted classification and terminology.

Fibrous papule of the face with granular cells.

Fibrous papule of the face is a common benign lesion located most often on the nose. It presents usually as a single small, firm, skin-coloured papule and is often misdiagnosed as melanocytic naevus, wart or small nodular basal cell carcinoma. Histopathologically, the lesions are characterized by involvement of the upper dermis by a fibrovascular proliferation and scattered triangular or stellate, often multinucleated cells.

Pagetoid reticulosis with CD30 positivity and cytotoxic/suppressor cells.

Pagetoid reticulosis (PR) is a low-grade primary cutaneous T-cell lymphoma that usually presents as a solitary, slowly enlarging erythematous or hyperkeratotic plaque on the distal areas of the extremities. Histopathologically, it is characterized by a dense, band-like infiltrate of atypical lymphocytes with prominent epidermotropism within a hyperplastic epidermis, and immunophenotypic studies show in most cases, a CD4-positive T-helper phenotype for the neoplastic lymphocytes. We describe an African man with a more than 20-year history of an acral lesion of PR, which was histopathologically characterized by lymphocyte immunophenotype consisting of CD8- and CD30-positive cells.

Lupus erythematosus profundus in black South Africans.

Background: Lupus erythematosus profundus (lupus panniculitis) is a rare variant of lupus erythematosus with predominant involvement of the subcutaneous tissue. There are only a few reported series of patients with this condition; none in individuals of African ancestry. The aim of the study was to evaluate clinical, histopathological and laboratory findings in black South African patients with lupus profundus.

Squamous cell carcinoma arising in CHILD syndrome.

Congenital hemidysplasia with ichthyosiform naevus and limb defects (CHILD) syndrome is a rare X-linked dominant disorder. The first case of squamous cell carcinoma arising within the affected ichthyosiform skin in a 33-year-old woman is reported.

Bathing-suit ichthyosis. A peculiar phenotype of lamellar ichthyosis in South African blacks.

Autosomal recessive congenital ichthyosis is a heterogeneous group of disorders of cornification showing a wide spectrum of clinical phenotypes.Here, thirteen cases of a so far unreported distinct type of autosomal recessive congenital ichthyosis are described. All the skin lesions were present at birth and ten were then compatible with collodion baby.

Adapalene gel 0.1% for topical treatment of acne vulgaris in African patients.

Acne vulgaris is a common dermatologic disease in African patients, as well as in Caucasians. Our report evaluates the safety and efficacy of adapalene gel 0.1% in African patients with acne vulgaris.

Adapalene in the treatment of African patients.

Aim: To assess the efficacy and safety of topical adapalene gel 0.1% as a treatment for acne vulgaris in black South African patients.

Background: African and other darker skin types represent a particular clinical challenge for dermatologists treating acne.

Highly aggressive extraocular sebaceous carcinoma.

Extraocular sebaceous carcinoma is an uncommon neoplasm usually localized on the head and neck. We report a case of sebaceous carcinoma of the axillary skin with a highly aggressive behavior. The patient was a 43-year-old black man who developed multiple cutaneous and lymph node metastases shortly after the excision of primary sebaceous carcinoma of the axillary skin.

Cutaneous sarcoidosis in black South Africans.

Background: It has been observed that, in the USA, sarcoidosis is more common in African-Americans than in other races. It has also been noted that sarcoidosis in African-Americans is characterized by more severe extrapulmonary involvement and more exuberant skin lesions. There is little information on sarcoidosis in black Africans.

Xeroderma pigmentosum in black South Africans.

Background: Xeroderma pigmentosum occurs in all races. There is little information on its clinical picture, frequency, and types of malignant lesions in individuals of African negroid extraction.

Methods: Fifteen black South African patients, aged from 10 months to 21 years, with xeroderma pigmentosum were prospectively studied.

Pityriasis rubra pilaris in black South Africans.

Eighteen black South African patients with pityriasis rubra pilaris were prospectively studied, nine adults and nine children; patients with the classical types (namely I and III) constituted 75% of the group. Follicular involvement was very prominent, especially in the children with type III, but otherwise the clinical and histological findings did not differ from those reported in white patients. This is the first series of black African patients with this condition to be reported.

Tubular apocrine carcinoma arising in a nevus sebaceus of Jadassohn.

We present an example of tubular carcinoma that developed within a nevus sebaceus of Jadassohn on the scalp of a 53-year-old woman. The neoplasm showed features of sebaceous and apocrine differentiation. We review the literature about the malignant neoplasms arising in the nevus sebaceus of Jadassohn.

Cutaneous infection due to Cladophialophora bantiana in a patient receiving immunosuppressive therapy.

Cladophialophora bantiana (Xylohypha bantiana, Cladosporium trichoides), a dematiaceous fungus, causes mainly infections of the central nervous system. Systemic antifungal therapy is apparently unsuccessful. Extracerebral involvement is uncommon and only few cases have been reported.

Viral warts in a patient with Darier's disease show acantholytic dyskeratosis.

A 15-year-old boy with classic clinical and histopathological features of Darier's disease developed viral warts that were confirmed by DNA hybridization studies. Histologically, there were features of acantholytic dyskeratosis in otherwise typical common warts.