# ST14 syndromic epidermal differentiation disorder: A case report of a homozygous recessive variant with photosensitivity

**Authors:** Nermeen Elhofy, Sara Khalid Almukhaimar, Sarah Yousef Alyaseen, Ali Wasel Aldandan, Mohammed Abdulmohsen Al-mulhem

PMC · DOI: 10.1016/j.jdcr.2026.01.037 · JAAD Case Reports · 2026-02-02

## Full-text entities

- **Genes:** PRSS8 (serine protease 8) [NCBI Gene 5652] {aka CAP1, PROSTASIN}, ST14 (ST14 transmembrane serine protease matriptase) [NCBI Gene 6768] {aka ARCI11, CAP3, HAI, MT-SP1, MTSP1, PRSS14}, FLG (filaggrin) [NCBI Gene 2312] {aka ATOD2, FLG-1, FLG1}
- **Diseases:** Ocular dryness (MESH:D014987), Trichothiodystrophy (MESH:D054463), atopy (MESH:C564133), EDDs (MESH:D012734), vitamin B12 deficiency (MESH:D014806), Netherton syndrome (MESH:D056770), pili torti (MESH:C562485), scarring alopecia (MESH:D002921), hearing impairment (MESH:D034381), respiratory distress (MESH:D012128), ichthyosis (MESH:D007057), sclerosing cholangitis (MESH:D015209), trichorrhexis invaginata (MESH:C536556), blepharitis (MESH:D001762), hypotrichosis (MESH:D007039), anemia (MESH:D000740), congenital ichthyosis (MESH:C538281), dental anomalies (OMIM:614188), Nutritional deficiencies (MESH:D044342), Hereditary epidermal differentiation disorders (MESH:D009386), photophobia (MESH:D020795), follicular atrophoderma (MESH:C537663), neurological involvement (MESH:C538190), hypohidrosis (MESH:D007007), hair abnormalities (MESH:D006201), autosomal recessive ichthyosis (MESH:C537265), hyperkeratosis (MESH:D017488), Ichthyosis-hypotrichosis-sclerosing cholangitis (MESH:C564365)
- **Chemicals:** iron (MESH:D007501), lipid (MESH:D008055), minoxidil (MESH:D008914), vitamin B12 (MESH:D014805), Mecobalamin (MESH:C019476), paraffin (MESH:D010232), vitamin D (MESH:D014807), salicylic acid (MESH:D020156), zinc (MESH:D015032), cholecalciferol (MESH:D002762), urea (MESH:D014508), ketoconazole (MESH:D007654), selenium (MESH:D012643), ferrous sulfate (MESH:C020748)
- **Species:** Homo sapiens (human, species) [taxon 9606]

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## References

8 references — full list in the complete paper: https://tomesphere.com/paper/PMC12966875/full.md

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Source: https://tomesphere.com/paper/PMC12966875