NSDHL
Xq28 HGNC:13398 MIM.300275 Entrez:50814
The human NSDHL gene is the homolog of the mouse gene mutant in the ’bare patches’ (Bpa) and ’striated’ (Str) phenotypes, at Xq28.
NSDHL (MIM.300275) plays an important role in the cholesterol biosynthetic pathway.
Pathology
CHILD syndrome associates congenital hemidysplasia with ichthyosiform nevus and limb defects (MIM.308050). It is an X-linked dominant trait with lethality for male embryos.
CHILD syndrome is due to loss of function of an enzyme involved in cholesterol biosynthesis NSDHL.
Synopsis
congenital hemidysplasia
ichthyosiform nevus
limb defects
strictly lateralized inflammatory nevus (right side of the body ++)
Ipsilateral hypoplastic lesions may involve the brain, skeletal structures, lungs, heart or kidneys.
Absence of metacarpal, metatarsal and phalangeal bones of the left hand and foot resulting in oligodactyly
ipsilateral inflammatory epidermal nevus with hyperkeratosis, parakeratosis, acanthosis and perivascular lymphohistiocytic infiltrate
References
CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene. Kim CA, Konig A, Bertola DR, Albano LM, Gattás GJ, Bornholdt D, Leveleki L, Happle R, Grzeschik KH. Dermatology. 2005;211(2):155-8. PMID: #16088165#
A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement. König A, Happle R, Fink-Puches R, Soyer HP, Bornholdt D, Engel H, Grzeschik KH. J Am Acad Dermatol. 2002 Apr;46(4):594-6. PMID: #11907515#