PedAM
Pediatric Disease Annotations & Medicines
| Disease | alopecia |
| Phenotype | C0020757|ichthyosis |
| Sentences | 4 |
| PubMedID- 21413958 | ichthyosis follicularis with alopecia and photophobia (ifap): late diagnosis in 18-year-old man. |
| PubMedID- 24008802 | The syndrome of ichthyosis follicularis with alopecia and photophobia (ifap) syndrome was first described in 1909 by macleod 1909 in three boys. |
| PubMedID- 25685152 | At the age of 16 months, sequencing of mbtps2 gene revealed a missense mutation c.1360g>c (p.ala454pro) in hemizygosity, thus validating the diagnosis of ichthyosis follicularis with alopecia and photophobia (ifap-omim number 308205). |
| PubMedID- 21886760 | Photoletter to the editor: a new variant of ichthyosis follicularis with alopecia and photophobia (ifap) syndrome with coexisting psoriasiform lesions and palmoplantar keratoderma. |
Page: 1