The Journal of Bucharest College of Physicians and the Romanian Academy of Medical Sciences

Mihai Dumitrascu

Mihai Dumitrascu

A Case Report of Aplasia Cutis Congenita Type VI: Bart Syndrome

Bart syndrome is a genetic disorder that is characterized by the association of congenital localized absence of the skin (aplasia cutis), blister formation (epidermolysis bullosa), dystrophic nails and lesions of the mouth mucosa. The association of this diseases is considered a variant of aplasia cutis congenita (ACC) with epidermolysis bullosa (EB). The inheritance pattern of Bart’s syndrome seems to be autosomal dominant. Aplasia cutis congenita (ACC) is a group of heterogeneous diseases representing failure of the skin to fully develop. Frieden created a classification system for ACC consisting of nine groups based on the number and location of the lesions and the presence or absence of associated malformations. In this report, we present a rare case of Bart syndrome in a newborn female baby with aplasia cutis in the lower extremities associated with lesions of epidermolysis bullosa on the face and on the hand fingers first, then located also on the thighs, and dystrophic nails.

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Cutaneous Sarcoidosis – Diagnostic Challenges

Sarcoidosis is a multisystemic granulomatous disease, with unknown etiology, characterized histopathologically by the development in the affected organs of some „empty” (non-caseous) granulomas. Cutaneous lesions can sometimes be the fi rst localization of the disease. We present the case of a patient with known sarcoidosis and autoimmune thyroiditis, who developed a rash spread on the trunk and limbs, for which she was treated with dermatocorticoids and antihistamines, but without significant improvement. A skin biopsy was performed with histopathological examination, which revealed: at the dermal level, lympho-histiocytic infiltrates with nodular distribution, forming several granulomas, without areas of necrosis of caseification, including frequent cells with epithelioid appearance, suggestive for the diagnosis of cutaneous sarcoidosis. The patient underwent systemic cortisone therapy and hydroxychloroquine, with favorable outcome. The challenge of diagnosing this pathology is to differentiate it from a number of conditions, including: ring granuloma, cutaneous Crohn’s disease, lipoid necrosis, lupus vulgaris. To establish the diagnosis of certainty, it is necessary to correlate the clinical data with the result of the histopathological examination.

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