Tyrosinemia type II
| Tyrosinemia type II | |
|---|---|
| Other names | Oculocutaneous tyrosinemia,[1] Richner-Hanhart syndrome[2][1]: 543 |
| Tyrosine | |
| Specialty | Dermatology |
| Symptoms | Palmar hyperkeratosis, Plantar Hyperkeratosis, hyperhidrosis, corneal opacity, corneal ulcers. |
| Causes | Genetic (autosomal recessive)[3] |
Tyrosinemia type II is an autosomal recessive condition with onset between ages 2 and 4 years, when painful circumscribed calluses develop on the pressure points of the palm of the hand and sole of the foot.[4]: 512
- ^ a b James WD, Elston DM, Berger TG, Andrews GC (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ^ Zea-Rey AV, Cruz-Camino H, Vazquez-Cantu DL, Gutiérrez-García VM, Santos-Guzmán J, Cantú-Reyna C (27 November 2017). "The Incidence of Transient Neonatal Tyrosinemia Within a Mexican Population" (PDF). Journal of Inborn Errors of Metabolism and Screening. 5: 232640981774423. doi:10.1177/2326409817744230.
- ^ "Tyrosinemia type 2". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. Archived from the original on January 24, 2017. Retrieved 24 August 2019.
- ^ Freedberg IM, Fitzpatrick TB (2003). Fitzpatrick's Dermatology in General Medicine (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.