It is a rare, autosomal recessive
genodermatosis known for an increased risk of skin carcinomas (4).
Hatzis, "Reticular pigmented
genodermatosis with milia a special form of Naegeli-Franceschetti-Jadassohn syndrome or a newentity?" Clinical and Experimental Dermatology, vol.
Neurofibromatosis type 1 (NF1), also known as von Recklinghausen' s disease, is an autosomal dominant transmitted
genodermatosis, caused by NF1 gene mutations, which is located on chromosome 17q11.2 and has an incidence of 1: 3,000-5,000 births (1).
Hailey-Hailey disease is a
genodermatosis characterized by incomplete penetrance of an autosomal dominant disorder with defects in the ATP2C1 gene.
IP is a rare
genodermatosis characterized by abnormalities of the tissues and organs derived from the ectoderm and neuroectoderm.
Naxos disease is a rare
genodermatosis with woolly hair, keratoderma of palms and soles and cardiomyopathy.
The unusual confluence of viral infections (molluscum contagiosum, viral warts, eczema herpeticum, cytomegalovirus infection, and chronic herpes simplex virus infection) directs the clinician to focus on a
genodermatosis as the cause of these diseases.
Our report emphasizes the fact that not all components of the syndrome need to be present in any given patient, and in all cases of
genodermatosis, pleomorphism may be expected with variable clinical manifestations of a single genetic aberration.
Mutations in these KRTs have been shown to cause pachyonychia congenita, a rare
genodermatosis characterized by dystrophic, thickened nails and painful palmoplantar keratoderma.
Based on the discussions and in collaboration with other dermatologists in SA, George Findlay authored the first publication detailing the clinical features and naming this novel
genodermatosis, keratolytic winter erythema (KWE) or Oudtshoorn skin.
X-linked ichthyosis: An oculocutaneous
genodermatosis. J Am Acad Dermatol.