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:

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Resources:

Learn more about this disease at Orphanet under disease code 281201:

  • Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) syndrome

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