Categories: Integument (skin) phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 242500 (trait) , 601277 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: Called Autosomal Recessive Congenital Ichthyosis (ARCI) in humans (see MIM number above)

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Clinical features: Câmara et al. (2017) reported a case of a single crossbred lamb: "Physical examination revealed apathy, fever, ectropion and eclabium. Generalized thickening and scaling of the skin was noted; this was most severe on the face, ears, inner thighs, limbs and perineum. Deep fissures and wounds were present on the hind limbs and forelimbs." Lesions progressed over time and the animal was euthanised at 3 months of age.

Pathology: Câmara et al. (2017) reported postmortem findings included "severe epidermal thickening, multiple subcutaneous abscesses, ectropion and corneal scars. Histological findings revealed diffuse orthokeratotic hyperkeratosis, follicular keratosis, irregular epidermal hyperplasia and atrophy of the sebaceous glands. Serum vitamin A concentration was within the normal range for the species."