Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) syndrome
Acronym:
KLICK
SAID group:
POMP-Related Systemic Autoinflammatory Diseases, Proteasome-associated, Autoinflammatory keratinization disease (AiKD)
Gene:
homozygous single-nucleotide deletion in the 5′ UTR of POMP
Inheritance:
Autosomal Recessive
Ethnicity:
Frequency:
Timing of symptoms:
Age of onset:
Skin cutaneous:
Neurologic:
Auditory:
Ophthalamic:
Cardiopulmonary:
Abdominal:
Lymphatic:
Joints bones muscles cartilage:
Vasculitis:
Amyloidosis:
Abnormal labs:
Search Keywords:
Photo credit:
Resources:
Learn more about this disease at Orphanet under disease code 281201: