Restrictive dermopathy (RD) is a rare, lethal
autosomal recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...
skin condition characterized by
syndromic facies
In medical contexts, a facies is a distinctive facial expression or appearance associated with a specific medical condition. The term comes from Latin for "face". As a fifth declension noun, ''facies'' can be both singular and plural.
Types
Exam ...
, tight skin, sparse or absent eyelashes, and secondary joint changes.
[James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. .]
Mechanism
Restrictive dermopathy (RD) is caused either by the loss of the gene
ZMPSTE24
ZMPSTE24 is a human gene. The protein encoded by this gene is a metallopeptidase. It is involved in the processing of lamin A. Defects in the ZMPSTE24 gene lead to similar laminopathies as defects in lamin A, because the latter is a sub ...
, which encodes a protein responsible for the cleavage of farnesylated prelamin A into mature non-farnesylated
lamin
Lamins, also known as nuclear lamins are fibrous proteins in type V intermediate filaments, providing structural function and transcriptional regulation in the cell nucleus. Nuclear lamins interact with inner nuclear membrane proteins to form t ...
, or by a mutation in the LMNA gene. This results in the accumulation of farnesyl-prelamin A at the nuclear membrane.
Mechanistically, restrictive dermopathy is somewhat similar to
Hutchinson–Gilford progeria syndrome
Progeria is a specific type of progeroid syndrome, also known as Hutchinson–Gilford syndrome. A single gene mutation is responsible for progeria. The gene, known as lamin A (LMNA), makes a protein necessary for holding the Nucleus of the cell ...
(HGPS), a disease where the last step in lamin processing is hindered by a mutation that causes the loss of the ZMPSTE24 cleavage site in the lamin A gene.
Diagnosis
Treatment
See also
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Relapsing linear acantholytic dermatosis
Relapsing linear acantholytic dermatosis is a cutaneous condition characterized by relapsing linear erosions and crusting, histologically identical to Hailey–Hailey disease. It is not to be confused with transient acantholytic dermatosis.
See ...
*
List of cutaneous conditions
Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands. The major function of this system is as a barrier against t ...
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Lamellar ichthyosis
Lamellar ichthyosis, also known as ichthyosis lamellaris and nonbullous congenital ichthyosis, is a rare inherited skin disorder, affecting around 1 in 600,000 people.
Presentation
Affected babies are born in a collodion membrane, a shiny, waxy- ...
– Possible differential diagnosis
References
External links
{{Progeroid syndromes
Autosomal recessive disorders
Genodermatoses
Progeroid syndromes
Rare diseases