Diseases of the skin and subcutaneous tissue (dermatology)

Ectomesodermal focal dysplasia

Focal ectomesodermal dysplasia (syn.: Goltz syndrome, Goltz-Gorlin syndrome, focal dermal hypoplasia, mesoectodermal dysplasia syndrome) is a rare disease, probably genetically heterogeneous, but in most cases inherited in an X-linked dominant manner with a lethal outcome in male fetuses.

Pediatric progeria (Getchinson-Gilford syndrome)

Childhood progeria (syn. Hutchinson-Gilford progeria syndrome) is a rare, probably genetically heterogeneous disease, with a predominantly autosomal recessive type of inheritance; the possibility of a new dominant mutation is not excluded.

Adult progeria (Werner's syndrome)

Werner syndrome (syn. adult progeria) is a rare autosomal recessive disease, gene locus - 8p12-p11. It develops in people aged 15-20 years and is characterized by gradual progression.

Ataxia telangiectatica (Louis-Bar syndrome)

Ataxia telangiectatica (syn.: Louis-Bar syndrome) is a rare systemic disease characterized by cerebellar ataxia, which is the earliest symptom, telangiectasias appearing later, usually at 4 years of age, chromosomal instability, immunodeficiency leading to frequent infections

Elastosis perforating serpiginous elastosis: causes, symptoms, diagnosis, treatment

Elastosis perforans serpiginosa (syn.: keratosis follicularis serpiginosa of Lutz, elastoma intrapapillary perforans verruciformis of Miescher) is a hereditary disease of connective tissue of unclear etiology

Elastic pseudoxanthoma: causes, symptoms, diagnosis, treatment

Pseudoxanthoma elasticum (syn.: Gronblad-Strandberg syndrome, Touraine's systematized elastorexis) is a relatively rare systemic disease of connective tissue with predominant lesions of the skin, eyes and cardiovascular system.

Lax skin: causes, symptoms, diagnosis, treatment

Flabby skin (syn.: dermatochalasis, generalized elastolysis) is a heterogeneous group of generalized connective tissue diseases with common clinical and histological changes in the skin.

Chernogubov-Ehlers-Danlos syndrome (hyperelastic skin): causes, symptoms, diagnosis, treatment

Chernogubov-Ehlers-Danlos syndrome (syn. hyperelastic skin) is a heterogeneous group of hereditary connective tissue diseases characterized by a number of common clinical signs and similar morphological changes.

Epidermolysis bullosa: causes, symptoms, diagnosis, treatment

Congenital bullous epidermolysis (syn. hereditary pemphigus) is a heterogeneous group of genetically determined diseases, among which there are both dominantly and recessively inherited forms.

Familial benign chronic vesicles: causes, symptoms, diagnosis, treatment

Familial benign chronic pemphigus (syn. Gougerot-Hailey-Hailey disease) is an autosomal dominantly inherited disease characterized by the appearance in puberty, but often later, of multiple flat blisters