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.