X-linked recessive ichthyosis in 8 Tunisian patients: awareness of misdiagnosis due to the technical trap of the STS pseudogene.

INTRODUCTION: X-linked recessive ichthyosis (XLI) is a genodermatosis, caused by a deficiency of the steroid sulphatase enzyme encoded by the STS gene (OMIM # 300,747). Adopted XLI molecular diagnosis approaches differ from one laboratory to another depending on available technical facilities. Our work aims to figure out a sound diagnostic strategy for XLI. PATIENTS AND METHODS: We collected 8 patients with XLI, all males, from 3 unrelated Tunisian families from central Tunisia. Genetic diagnosis was conducted through a large panel of genetic techniques including: Sanger Sequencing, haplotype analysis of STR markers, MLPA analysis, FISH and array CGH. RESULTS: Direct Sanger sequencing of the STS gene showed the same deletion of 13 base pairs within the exon 4 in all patients resulting in a premature stop codon. However, all patients' mothers were not carriers of this variant and no common haplotype flanking STS gene was shared between affected patients. Sequence alignment with reference human genome revealed an unprocessed pseudogene of the STS gene located on the Y chromosome, on which the 13 bp deletion was actually located. STS MLPA analysis identified a deletion of the entire STS gene on X chromosome for all affected patients. This deletion was confirmed by FISH and delineated by array CGH. CONCLUSION: All our patients shared a deletion of the entire STS gene revealed by MLPA, confirmed by FISH and improved by array CGH. Geneticists must be aware of the presence of pseudogenes that can lead to XLI genetic misdiagnosis.

Domperidone-induced pityriasis rosea-like drug eruption.

Pityriasis rosea is a common, acute, self limiting inflammatory skin disease. Pityriasis rosea-like eruptions (PR-LE) have been reported after drugs. The clinical presentation of PR-LE can be distinguished from pityriasis rosea. We reporte a 41-year-old woman who developed PR-LE 5 days after administration domperidone.

Sporotrichoid Abscesses: A Rare Form of Recurrent Cutaneous Leishmaniasis in an Infant's Face.

An 8-month-old infant presented with a 3-month history of two swellings on her left cheek. Past history revealed cutaneous leishmaniasis (CL) of the same site 8 months earlier; the patient was treated with intralesional infiltrations of meglumine antimoniate over 4 months, leaving behind an atrophic scar. The current lesions started 1 month after the healing of the initial ones and gradually increased in size and later became fluctuant. She had been treated with several antimicrobial agents, without any improvement. Her examination revealed two subcutaneous inflammatory and renitent nodules of 2-3 cm in diameter on the left cheek, associated with a cribriform scar under the external angle of the left eye, corresponding with the CL. The abscesses were aspirated, revealing yellowish pus. Culture was negative for bacterial growth. Smears for Leishmania bodies performed, using Leishman and Giemsa stains and taken from both the subcutaneous abscesses and the dystrophic scar; were positive. The diagnosis of a lymphatic dissemination was established based on the previous history of CL treated with local therapy. The patient was started on intramuscular injections of meglumine antimoniate (60 mg/kg/day) for 21 days, and she responded well to the treatment, with complete disappearance of the lesions. Repeat skin smears were negative for Leishmania bodies.

Verrucous sarcoidosis: a diagnosis to keep in mind.

Skin manifestations of sarcoidosis occur in up to 30% of cases, and may be the sentinel sign of the disease, with the skin being sometimes exclusively affected. While this may facilitate an early dermatologic diagnosis, heterogeneity in the cutaneous morphologies of sarcoidosis complicates recognition and affirms its reputation as a "great imitator". Here, we present a case of a verrucous version of sarcoidosis that may be misdiagnosed because it can mimic other inflammatory and neoplastic skin disorders. Although it is a rare variant, its presence should alert clinicians to the likelihood of systemic involvement of cutaneous sarcoidosis.

Alopecia areata in Tunisia: epidemio-clinical aspects and comorbid conditions. A prospective study of 204 cases.

BACKGROUND: Alopecia areata (AA) is an autoimmune condition that usually presents as patchy, nonscarring hair loss. Autoimmune disorders and atopy are reported as comorbid conditions. We aimed to investigate the demographics, clinical characteristics, and associations of AA in Tunisian patients. METHODS: Demographic data, pattern of alopecia, age of onset, and associations were evaluated in 204 patients from January 2012 to June 2016. RESULTS: Two hundred and four cases of AA were seen. The male to female ratio was 0.68. The mean age at presentation was 23 years old. Positive family history was noticed in 22.1% of patients. Personal history of atopy was associated with AA in 18.1%. Associated autoimmune diseases were thyroid disorders (12.7%), vitiligo (1.5%), psoriasis (three cases), type 1 diabetes (two cases), autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome (two cases), lichen sclerosus atrophicus (one case), and pemphigus vulgaris (one case). Patchy AA was the most common manifestation (49.5%) followed by alopecia universalis (27.5%), alopecia ophiasis (12.7%), and alopecia totalis (10.3%). Nail changes consisting of pitting, trachyonychia, and longitudinal ridging were reported in 24.8%. AA patterns were more severe in females (P = 0.049). Severe forms showed more persistent disease duration (P = 0.005), earlier onset (P = 0.001), and more recurring episodes (P = 0.002) and were significantly associated with nail involvement (P < 0.001). CONCLUSIONS: Our study aimed to review epidemio-clinical characteristics and comorbid conditions of AA in Tunisian patients. More severe cases with a pejorative value of early-onset AA, long disease duration, and nail involvement were seen in our study.

Synovial sarcoma complicating Maffucci syndrome.

Maffucci syndrome is a rare nonhereditary disorder comprising of lymphovascular malformations and multiple enchondromas, which may be associated with several internal malignancies. This report describes a new association of Maffucci syndrome with pedal synovial sarcoma. Our case is also remarkable as lymphangioma circumscriptum is the sole lymphovascular component, which has been rarely reported. The aim of this report is to generate awareness about this rare condition and also highlight the importance of screening for malignancies in this disorder.