We report this case due to the identification of a novel gene mutation in a patient with mal de Meleda, a palmoplantar keratoderma
Haim Munk syndrome is characterized by congenital palmoplantar keratoderma
and progressive early onset periodontitis.
Pachyonychia congenita (PC) It is an autosomal dominant disorder characterized by focal palmoplantar keratoderma
, subungual hyperkeratosis of nails, often accompanied by oral leukokeratosis, various types of cysts, follicular hyperkeratosis and palmoplantar hyperhidrosis.
We suggest adding palmoplantar keratoderma
and onychauxis to the list of cutaneous manifestations of early congenital syphilis.
Additional cutaneous manifestations include diffuse palmoplantar keratoderma
with linear patterns of punctate keratoses, sometimes accentuated in the creases , congenital great toenail misalignment, onycholysis, and subungual hyperkeratosis [68, 69].
PRP is a chronic papulosquamous disorder characterized by reddish-orange scaly plaques, palmoplantar keratoderma
, and keratotic follicular papules (1).
Linkage of an American pedigree with palmoplantar keratoderma
and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24.
The condition usually presents at birth and the baby is found to be ensheathed in a membrane.3,4 When the membrane sheds, typical scales become visible which are broad, dark-brown, thick, adherent and plate-like in nature.3,4 The associated features are ectropion, scarring alopecia and palmoplantar keratoderma
.4 Diagnosis of LI is based on the history of collodion membrane at birth and the characteristic appearance of scales, especially on the shins.
The team of scientists from A*STAR's Institute of Medical Biology (IMB), in collaboration with hospitals and research centres from the UK, Japan and Tunisia, found that this skin disorder, called punctate palmoplantar keratoderma
(punctate PPK), is caused by mutations in the AAGAB gene.
The disorder is characterized by diffuse palmoplantar keratoderma
and premature loss of both deciduous and permanent teeth; though, reports of late onset PLS have also been documented.