A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome

Table 1 Syndromic forms of ichthyosis with hair pathology

Syndrome	Gene	Protein function	Inheritance	Hair involvement	OMIM#
Ichthyosis-hypotrichosis syndrome	ST14	Matriptase-prostasin cascade activation	AR	Hypotrichosis, lightly colored hair, follicular atrophoderma	602,400
Netherton syndrome	SPINK5	Matriptase-prostasin cascade inhibition	AR	Sparse, brittle hair, trichorrhexis invaginata	256,500
NISCH syndrome	CLDN1	Tight junction formation	AR	Hypotrichosis, alopecia	607,626
IFAP syndrome	MBTPS2	Regulation of sterol synthesis	XLR	Generalized atrichia	308,205
Trichothiodystrophy	ERCC2 ERCC3 GTF2H5 MPLKIP GTF2E2	Transcription factor activation, nucleotide excision repair	AR	Thin, brittle hair, alternating light and dark bands under polarized light	601,675 616,390 616,395 234,050 616,943
Conradi-Hünermann-Happle syndrome	EBP	Sterol biosynthesis	XLD	Sparse hair, cicatricial alopecia, follicular atrophoderma	302,960
KID syndrome	GJB2	Gap junction formation	AD	Alopecia totalis	148,210

Abbreviations: NISCH Neonatal Ichthyosis-Sclerosing Cholangitis, IFAP Ichthyosis Follicularis, Atrichia, and Photophobia, KID Keratitis-Ichthyosis-Deafness, AR Autosomal Recessive, XLR X-linked Recessive, XLD X-linked Dominant, AD Autosomal Dominant

ISSN: 1750-1172