Ichthyosis curth-macklin Q80.8

Very rare, autosomal dominant keratinopathic genodermatosis with pronounced hystrix-like skin alterations on the entire integument including joint bends as well as palms of hands and soles of feet. Only few cases have been described so far.

Including the ichthyosis Curth-Macklin described here, 5 clinical variants are described, which refer to respective families (Mehta S et al. 2015):

• Ichthyosis (hysterix) Brocq
• Ichthyosis (hysterix) Lambert (Ichthyosis hysterix Lambert)
• Ichthyosis (hysterix) Curth-Macklin
• Ichthyosis (hysterix) Rheydt
• Ichthyosis (hysterix) Baefverstedt.

The genetic defect (autosomal dominant) is located on the gene locus KRT1 12q13 (Wang WH et al. 2016).

The older name "Ichthyosis hysterix" was problematic in that it was a purely descriptive description of the condition of an ichthyosis with spiny black-brown hyperkeratoses, which can be observed in several ichthyoses, depending on the state of treatment.

1. Brusasco A et al (1994) Ichthyosis Curth-Macklin - a new sporadic case with immunohistochemical study of keratin expression. Arch Dermatol 138: 1077-1079
2. Curth HO, Macklin MT (1954) The genetic basis of various types of ichthyosis in a family group. At J Hum Genet 6: 371-381
3. Ishida-Yamamoto A et al (2002) Lessons from disorders of epidermal differentiation-associated keratins. Histol Histopathol 17: 331-338
4. Mehta S et al (2015) A Sporadic Case of Ichthyosis Curth Macklin: Rare Presentation of a Rare Disease.
   Indian J Dermatol 60:522.
5. Speaker E et al (2003) Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5th J Invest Dermatol 120: 623-626
6. Wang WH et al (2016) Ichthyosis hystrix Lambert type and Curth-Macklin type are a single entity withaffected
   (KRT1 mutation) or unaffected (KRT10 mutation) palms and soles?Eur J Dermatol 26:493-495.