Ectomesodermal focal dysplasia

Ectomesodermal focal 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 X-linked dominantly fatal in male fetuses, the gene locus Хр22.31. It occurs almost exclusively in women.

[1], [2], [3], [4], [5]

Pathomorphology of ectomeodermal focal dysplasia

In atrophic areas of the skin, thinning of the dermis is noted in the normal structure of the epidermis. The subcutaneous fat layer is located close to the epidermis, sometimes at the level of the superficial vascular plexus. In the papillary layer, the number of vessels is increased, and the sparsity of the fibrous structures is noted. Collagen fibers are thinned, arranged in the form of separate filaments. Appendages of the skin are few, but their structure is within the normal range. A similar picture resembles a superficial lipomatous nevus of Goffman-Tsurkalle skin. In areas of hypoplasia with fatty protrusions, a similar but most pronounced pattern is revealed. In the area of papillomatous proliferation of the mucous membranes, the histological picture corresponds to the papilloma with increased vascularization of the stroma. At electron microscopic examination of atrophic areas of the skin, fibroblasts with long cytoplasmic processes and an underdeveloped endoplasmic reticulum are found around which thin fibrils without transverse striation, possibly complexes of tropocollagen and procollagen, are located. Mature collagen fibers in their structure do not differ from normal ones. In the subcutaneous basis, fat cells with many fat vacuoles predominate-young forms that indicate the proliferation of fat cells.

Histogenesis of skin changes in dysplasia ectomedodermal focal is associated with a violation of the growth kinetics of fibroblasts with their normal synthetic activity, which is the consequence of the scarcity of connective tissue elements of the dermis. At the same time, proliferation of subcutaneous fat cells replacing an inferior dermis occurs.

Symptoms

Clinically manifested by atrophogyokilodermic changes in the skin with hernial protrusions of subcutaneous tissue, abnormalities of the skeleton, teeth and eyes that appear from birth. Often there are papillomas on the mucous membranes of the lips, vagina, anus, lesions of the appendages of the skin in the form of nail dystrophy, hair growth disorders with nest baldness and sweating.

There is a mental underdevelopment with epileptiform seizures.