Background
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 |
Methods
Patient recruitment
Next-generation sequencing array
Polymerase chain reaction (PCR) and Sanger sequencing
Scanning electron microscopy
Results
Case report
Genetic diagnosis
Discussion
Clinical comparison to previous reports of IHS
Mutation | c.3G > A | c.598 + 1G > A | c.1444G > A (p.D482N) | c.1558G > C (p.E520Q) | c.2034delG (p.L678Ffs*84) | c.2269 + 1G > A | c.24791G > A (p.G827R) |
---|---|---|---|---|---|---|---|
Mutation type | Start codon | Splice site | Missense | Missense | Frameshift | Splice site | Missense |
Reference | [7] | [8] | Current report | [4] | [6] | [6] | [5] |
Description of ichthyosis | Generalized scaling, sparing flexures | Generalized erythema and scaling, later localized to back | Fine white generalized scale | Fine gray scale sparing elbows and knees | Generalized scaling, sparing flexures and face | Generalized scaling, sparing elbows, knees, and face | Gray to brown generalized scaling, sparing face |
Description of hypotrichosis | Light brown, coarse, curly scalp hair, generalized sparse hair including eyebrows, eyelashes | Light brown, receding frontal hairline, partial loss of eyebrows, curled eyelashes | Light brown, coarse scalp hair, recession of frontal hairline, generalized sparse hair | Coarse scalp hair, generalized sparse hair including eyebrows and eyelashes | Light brown, woolly hair, recession of frontal hairline | Sparse scalp, eyebrow, and body hair, with recession of frontal hairline | Curly, light. Sparse, generalized hair |
Palmoplantar keratoderma | – | + | – | – | – | – | – |
Ocular anomalies | Blepharitis | – | – | – | – | Pinguecula, corneal opacities | Corneal opacities |
Dental anomalies | – | – | – | Conical teeth, pitting | – | – | Conical teeth, pitting |
Follicular atrophoderma | – | – | + | + | + | + | – |
Hypohidrosis | – | – | – | – | + | + | – |