Clinical experience of observation and tactics of management of a patient with ectodermal angydrotic dysplasia

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The concept of “ectodermal dysplasias” covers a group of rare hereditary developmental anomalies that have a variety of phenotypic variants, but are characterized by common signs of underdevelopment or abnormal formation of organs and tissues derived from the ectodermal layer (skin and its derivatives - nails, hair, teeth, nervous system and sensory organs) ... Approximately 25% of ectodermal dysplasias known to date are inherited in an autosomal dominant or autosomal recessive manner; in other cases, the mode of inheritance is unclear. The syndrome is characterized by a wide range of clinical manifestations and may include additional symptoms of damage to other ectodermal, mesodermal, and endodermal structures. Ectodermal anomalies are a manifestation of disturbances in spatial-temporal coordination during the development of the epidermis. They involve genes such as EGF (epidermal growth factor), ED1 (ectodisplasin), EDAR (anhydrotic receptor ectodysplasin 1) and others that regulate the activity of genes involved in epidermal morphogenesis by activating or suppressing transcription factors (in particular, pb3; Koster). So far, only about 20% of genes have been identified that are responsible for about 200 ectodermal dysplasias of various symptoms and severity. This article describes the clinical observation of a patient with a rare disease - ectodermal anhydrotic dysplasia. The literature data on the clinical features of the course of this dermatosis, as well as the features of the course in this patient are presented.

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Elena Y. Startseva

Chelyabinsk Regional Clinical Dermatovenereology

ORCID iD: 0000-0003-3987-6176
Russian Federation, 24, st. Yablochkina, Chelyabinsk, 454048

Olga V. Bobrova

Chelyabinsk Regional Clinical Dermatovenereology

Russian Federation, 24, st. Yablochkina, Chelyabinsk, 454048

Olga I. Letyaeva

South-Ural State Medical University

ORCID iD: 0000-0002-9085-6229
SPIN-code: 3312-3150
Russian Federation, 64 Vorovskogo st., Chelyabinsk, 454092

Oleg R. Ziganshin

Chelyabinsk Regional Clinical Dermatovenereology; South-Ural State Medical University

ORCID iD: 0000-0002-5857-0319
SPIN-code: 5339-2533

MD, Dr. Sci. (Med.)

Russian Federation, 24, st. Yablochkina, Chelyabinsk, 454048; 64 Vorovskogo st., Chelyabinsk 454092

Ksenia K. Zakomoldina

South-Ural State Medical University

Author for correspondence.
ORCID iD: 0000-0003-4699-9465

Clinical Resident

Russian Federation, 64 Vorovskogo st., Chelyabinsk, 454092


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Supplementary files

Supplementary Files
1. Fig. 1. Typical patient appearance: a face with a prominent forehead, superciliary and zygomatic arches, periorbital dystrophy and pigmentation, protruding large auricles (Satyr's ears), a saddle nose, full inverted lips.

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2. Fig. 2. Sparse, thin, dull, discolored or slightly pigmented hair.

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3. Fig. 3. On the palms, foci of lichenification were determined, an increase in the skin pattern against a background of pronounced dryness.

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4. Fig. 4. Symptoms of atopic dermatitis with typical localization, itching, lichenification, scratching, dyschromia.

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