CLINICAL CASE: BLOCH-SULZBERGER SYNDROME (PIGMENT INCONTINENCE) IN A NEWBORN CHILD

Bloch-Sulzberger syndrome, or pigment incontinence, is a genetic disorder that belongs to the group of systemic melanoblastoses. According to literary sources, with the incidence of 1 case per 75 thousand children born, it is a rare disease. The process was first described by Garrod and Adamson in 1906 [2]. Bloch (1926) and Sulzberger (1928) identified this disease as an independent nosology (Bloch-Sulzberger melanoblastosis) [1]. Almost exclusively girls are affected, since the development of the pathology is associated with the X chromosome. The disease is based on a mutation of the NEMO gene in the Xq28 region, which encodes the transcription factor NF-κ-B. As a result of the mutation, the basal cells of the epidermis are unable to retain the melanin pigment, which accumulates in the melanophores of the dermis and intercellular spaces [1, 5]. Clinically, this is manifested by inflammation and rash of vesicular elements. The process develops at birth or in the first days, weeks of the child’s life. The disease occurs in several stages, which successively replace each other. In addition to skin lesions, patients with pigment incontinence have disorders of the nervous system (epilepsy, hydrocephalus, delayed psychomotor development, oligophrenia), optic nerve atrophy (blindness), strabismus, keratitis, various anomalies of the skeletal system, dystrophy of teeth, hair, nails [3, 4, 6]. This article presents a clinical case of Bloch-Sulzberger syndrome in a newborn girl. This disease was detected immediately after birth: the girl has visualized epithelial fragments, superficial erosions, small vesicles located in groups, dense with yellowish contents. These elements were located on the right forearm, right thigh, scalp in the occipital region, without pronounced hyperemia. In dynamics, against the background of the treatment, blisters and vesicles opened with the formation of erosions and crusts. The diagnosis of Bloch-Sulzberger syndrome in this case was made on the basis of clinical observation data, functional and laboratory studies, since it was not possible to conduct histological and molecular genetic studies. To confirm the diagnosis and determine further treatment tactics, we consulted with the Federal State Budgetary Institution N.N. Kulakov National Medical Research Center.

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