Page 21 - Delaware Medical Journal - October 2016
P. 21
CASE REPORT
unresponsive to broad spectrum antibiotics, vasopressors, stress steroid dosing, and other extreme lifesaving therapies. Despite these maximal medical efforts, the infant had progressive metabolic acidosis eventually requiring cardiopulmonary resuscitation, but died at 3 weeks of age.
DISCUSSION
The clinical diagnosis in this case was Restrictive Dermopathy (RD) a rare, but well described, usually lethal genodermatosis. RD was initially described in 1986 with fewer than 100 cases reported in the literature.1 RD is also known as tight skin contracture syndrome and features polyhydramnios, decreased fetal movement, premature delivery, facial dysmorphism, tight to an early death in the neonatal period.1 Clinical and pathologic and may only occasionally suggest the diagnosis of RD.
RD belongs to a group of laminopathies. Lamins are structural protein components of the nuclear lamina, a protein network underlying the inner nuclear membrane that determines nuclear shape and size. Three forms of lamins A, B and C, have been described in mammalian cells. At least two loci are involved
A and lamin C. The second locus, ZMPSTE24, encodes a zinc metalloproteinase, an enzyme necessary for the correct processing and maturation of lamin A.
Molecular testing for mutations at these two loci (LMNA
and ZMPTSTE24) is available. Heterozygosity for mutations at LMNA (Lamin A and Lamin C locus) are associated with RD. Homozygosity or mixed heterozygosity at ZMPTSTE24 (a zinc metalloproteinase locus) are associated with RD. Not all patients with RD have demonstrable mutations at one of these loci, suggesting that there are likely other loci mutations at which are associated with the RD phenotype. Accordingly, clinical information may be all that is available at this time to make the diagnosis. However, searching for mutations at the two loci may be of value, particularly with recurrence risk counseling with families.
exfoliated, hyperkeratotic horn layer, hypoplastic hair follicle,
FIGURE 1
FIGURE 2
Del Med J | October 2016 | Vol. 88 | No. 10 309
