Ichthyosis hystrix of Curth-Macklin(IHCM)

MedGen UID:: 326700
•Concept ID:: C1840296
•: Disease or Syndrome

Synonyms:	Ichthyosis histrix, curth-macklin type; Ichthyosis hystrix, Curth Macklin type
SNOMED CT:	Ichthyosis hystrix of Curth-Macklin (254170001)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Not genetically inherited MedGen UID: 988794 •Concept ID: CN307044 • Finding Source: Orphanet clinical entity without genetic inheritance. See: This record Autosomal dominant inheritance (Orphanet) Not genetically inherited (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	KRT1 (12q13.13)

Monarch Initiative:	MONDO:0007808
OMIM®:	146590
Orphanet:	ORPHA79503

Definition

The Curth-Macklin type of ichthyosis hystrix (IHCM) is clinically characterized by severe fissuring and mutilating palmoplantar keratoderma. Affected individuals also exhibit extensive dark spiky or verrucous hyperkeratotic plaques over the large joints and trunk, which in some patients may cover almost the entire body. Structural and ultrastructural hallmarks include compact orthokeratotic hyperkeratosis, hypergranulosis with perinuclear edema, binucleated cells, and formation of perinuclear filamentous shells composed of feathery entangled keratin intermediate filaments (summary by Richardson et al., 2006 and Fonseca et al., 2013). The Lambert type of ichthyosis hystrix (IHL; 146600), in which palms and soles are spared, is caused by mutation in the KRT10 (148080) gene. [from OMIM]

Clinical features

From HPO

Palmoplantar keratoderma

MedGen UID:: 1635750
•Concept ID:: C4551675
•: Disease or Syndrome

Abnormal thickening of the skin of the palms of the hands and the soles of the feet.

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Scaling skin

MedGen UID:: 472970
•Concept ID:: C0237849
•: Finding

Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.

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Fragile skin

MedGen UID:: 66826
•Concept ID:: C0241181
•: Finding

Skin that splits easily with minimal injury.

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Knuckle pads

MedGen UID:: 78103
•Concept ID:: C0264000
•: Disease or Syndrome

Skoog (1948) defined knuckle pads as 'subcutaneous nodules on the dorsal aspect of the proximal interphalangeal joints.'

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Hyperkeratotic papule

MedGen UID:: 852209
•Concept ID:: C2047516
•: Finding

A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically).

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Abnormal blistering of the skin

MedGen UID:: 412159
•Concept ID:: C2132198
•: Finding

The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.

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Amniotic constriction ring

MedGen UID:: 315953
•Concept ID:: C1527388
•: Congenital Abnormality

Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands.

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