Restrictive Dermopathy (ZMPSTE24)

A(z) condition ismertetése

A rare, lethal condition before or soon after birth in which the skin is tight and rigid, restricting movement and breathing. It is caused by changes in both copies of the ZMPSTE24 gene.

Restrictive dermopathy is a rare condition in which the skin is tight, thin, rigid and translucent, restricting movement and breathing. Babies may have fixed joint contractures, reduced fetal movement and growth restriction before birth, and premature birth is common. Most babies are stillborn or die within the first weeks of life, and care is palliative and supportive.

The condition is caused by loss of function of both copies of ZMPSTE24, an enzyme that processes prelamin A. Unprocessed prelamin A builds up and damages cell nuclei, as in other progeroid conditions. Lung underdevelopment leads to breathing failure.

The condition is inherited in an autosomal recessive way. Care is palliative and supportive. Carrier testing of parents and relatives and genetic counselling are important, because testing in future pregnancies is possible.

A vizsgált betegség

Miért a teljes genom szekvenálás

Restrictive dermopathy is inherited in a recessive way, so genetic counselling and testing in future pregnancies matter for families. Whole genome sequencing reads ZMPSTE24 in one test.

Korlátok

• Some people with restrictive dermopathy have a dominant change in the LMNA gene instead, which is not covered by this report.

Hivatkozások

1. Ververi A, Babatseva E, Mitsiakos G, Karagiannopoulou G, Malakozi M, Patsatsi A et al., 2023. Restrictive dermopathy due to ZMPSTE24 deficiency. Clinical dysmorphology
2. Moulson CL, Go G, Gardner JM, van der Wal AC, Smitt JH, van Hagen JM et al., 2006. Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy. The Journal of investigative dermatology
3. Worman HJ, Michaelis S, 2023. Prelamin A and ZMPSTE24 in premature and physiological aging. Nucleus (Austin, Tex.)

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• Fibrodysplasia Ossificans ProgressivaACVR1, GNAS
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• GAPO SyndromeANTXR1
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• H SyndromeSLC29A3
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• Pseudoxanthoma ElasticumABCC6, GGCX
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