Clinical, immunological, and genetic investigations in a rare association of type 1 diabetes with xeroderma pigmentosum.

Xeroderma pigmentosum (XP) is a rare genodermatosis predisposing to skin cancers. Autoimmune diseases related to XP are rarely discussed in the literature. Type 1 diabetes (T1D) has been associated with other genodermatoses like Cockayne syndrome, but it has never been described in XP. In the present study, we report the rare occurrence of T1D in XP patients. Five XP patients belonging to 4 consanguineous families originating from different regions of Tunisia were investigated. Their ages ranged between 8 and 18 years. All the patients had a severe hypovitaminosis D. All the patients had positive GAD antibody levels, and 4 of them had familial history of other autoimmune diseases. The spectrum of XP was variable in all the patients, with dermatological and neurological symptoms, and the occurrence of some cancers. Various hypotheses have been proposed to explain this association, among of which we cite the role of immunomodulation and down-regulation of ATP-dependent DNA excision repair protein genes, implying that impaired DNA repair may contribute to the development of some autoimmune diseases. Vitamin D3 deficiency secondary to sun protective measures was found in all patients and thus may play a role in increasing T1D risk in these patients.

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.

Pyogenic Granuloma-Like Kaposi Sarcoma: A Diagnostic Challenge.

An 81-year-old woman presented with a 2-month history of a painless nodule on the left foot that bled easily after minor trauma. She had no medical history and did not report any preexisting lesion. Physical examination revealed a 2 cm × 3 cm, exophytic and reddish-colored nodule, with an ulcerated and soft surface (Figure 1). There were no other skin lesions or abnormal physical findings. The diagnosis of a pyogenic granuloma (PG) was suggested. A biopsy specimen was obtained from the center of the lesion and stained with hematoxylin and eosin. Histopathologic examination revealed a marked proliferation of both capillary cells and spindle-shaped cells separated by slit-like vessels containing multiple erythrocytes (Figure 2A). Immunochemical analysis showed positivity for CD34 and human herpes virus (HHV)-8 in both endothelial and spindle cells (Figure 2B). Perls' staining showed abundant hemosiderin deposits in the tumor stroma (Figure 2C). These findings were consistent with the diagnosis of Kaposi sarcoma (KS). Laboratory tests eliminated a human immunodeficiency virus (HIV) infection, and no metastatic lesions were found on radiologic examinations. The lesion was treated with laser excision, with no recurrence at the 2-year follow-up.