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Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

KLICK syndrome is an autosomal recessive epidermal disorder caused by mutations of the POMP gene.

Systematic

Hereditary dermatological disorders
Autoinflammation with arthritis and dyskeratosis
Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome
Dyschromatosis symmetrica hereditaria
Ectodermal dysplasia and immunodeficiency
Epidermolysis bullosa
Familial acne inversa 1
Griscelli syndrome type 2
Hermansky-Pudlak syndrome 2
Incontinentia pigmenti
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
Interleukin 36 receptor antagonist deficiency
Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
POMP
Neonatal inflammatory skin and bowel disease type 1
Nephropathy with pretibial epidermolysis bullosa and deafness
Piebaldism
Psoriasis
Pyoderma gangrenosum, acne, and hidradenitis suppurativa (PASH)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
Susceptibility to vitiligo-associated multiple autoimmune disease 1

References:

1.

Dahlqvist J et. al. (2010) A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis.

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2.

Pujol RM et. al. (1989) Congenital ichthyosiform dermatosis with linear keratotic flexural papules and sclerosing palmoplantar keratoderma.

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3.

Vahlquist A et. al. (1997) Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK-syndrome): a rare, autosomal recessive disorder of keratohyaline formation?

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Update: Aug. 14, 2020
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