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Porcupine man(IHL)

MedGen UID:
Concept ID:
Congenital Abnormality
Synonyms: Ichthyosis histrix, Lambert type; Ichthyosis hystrix gravior; Lambert type ichthyosis
SNOMED CT: Ichthyosis Lambert type (1255143006); Ichthyosis hystrix gravior (1255143006)
Gene (location): KRT10 (17q21.2)
Monarch Initiative: MONDO:0007809
OMIM®: 146600
Orphanet: ORPHA79504


The Lambert type of ichthyosis hystrix (IHL) is characterized by normal skin at birth that develops striking spiny hyperkeratotic lesions within a few months. There is sparing of the face, palms, and soles, and affected individuals do not experience blistering. Marked improvement of lesions during the summer months has also been observed in some patients. Ultrastructurally, binuclear cells and tonofilament shells surrounding the nucleus in upper keratinocytes are observed (summary by Penrose and Stern, 1958; Wang et al., 2007; Wang et al., 2016). Another form of ichthyosis hystrix, the Curth-Macklin type (IHCM; 146590), includes severe palmoplantar keratoderma among its features and is caused by mutation in the KRT1 (139350) gene. [from OMIM]

Clinical features

From HPO
MedGen UID:
Concept ID:
Disease or Syndrome
Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
Abnormal blistering of the skin
MedGen UID:
Concept ID:
The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.
Orthokeratotic hyperkeratosis
MedGen UID:
Concept ID:
Disease or Syndrome
A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei.

Professional guidelines


Lodin A, Lagerholm B, Frithz A
Acta Derm Venereol 1966;46(5):412-22. PMID: 4162942

Recent clinical studies


Lodin A, Lagerholm B, Frithz A
Acta Derm Venereol 1966;46(5):412-22. PMID: 4162942

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