Palmoplantar keratoderma (PPK) is a heterogeneous group of hereditary and acquired disorders characterized by abnormal thickening of the palms and soles. There are three clinical patterns: diffuse, focal, and punctuate. Palmoplantar keratodermas can be divided into the following functional subgroups: disturbed gene functions in structural proteins (keratins), cornified envelope (loricrin, trans...

Synaptosomal-associated protein 29 (SNAP29) is a t-SNARE protein that is implicated in intracellular vesicle fusion. Mutations in the SNAP29 gene have been associated with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK). In patients with 22q11.2 deletion syndrome, mutations in SNAP29 on the nondeleted chromosome are linked to similar ichthyotic and neurological ph...

Keratin 9 (K9) is a type I intermediate filament protein whose expression is confined to the suprabasal layers of the palmoplantar epidermis. Although mutations in the K9 gene are known to cause epidermolytic palmoplantar keratoderma, a rare dominant-negative skin disorder, its functional significance is poorly understood. To gain insight into the physical requirement and importance of K9, we g...

Aquagenic palmoplantar keratoderma (APPK) classically presents as exaggerated wrinkling of the palms after brief immersion in water that lasts 10 minutes to a few hours. We present case report 19-year-old female who presented with peeling, sensitivity, and pain on her palmar hands, most prominently fingertips, persists for several an hour touching water. This highlights unique presentation APPK...

Sir, Palmoplantar keratodermas (PPKs) constitute a heterogeneous group of skin disorders with the distinctive trait of hyperkeratosis of palmoplantar skin. The disorders are classified clinically by the morphology and distribution of the hyperkeratosis, the presence of associated cutaneous and non-cutaneous features and by the mode of transmission (1, 2). Familial diffuse epidermolytic PPK (EPP...

Reported for the first time in 1996, aquagenic keratoderma is a rare condition which is characterized by edematous flat-topped papules appearing on palmar skin after water immersion. Multiple anecdotal associations have been described but, recently, the association with cystic fibrosis gene mutations (CFTR) has been highlighted. The authors describe an 18 year-old female, with one-month complai...

Sir, Spiny keratoderma is a rare disease characterized by keratotic spicules resembling a “music box spine” located on the palms and soles (1). This entity has been reported under several different names, such as punctate keratoderma (2), punctate porokeratotic keratoderma (3), palmar filiform hyperkeratosis (4), and spiny keratoderma of the palms and soles (1). We present here a case of spiny ...

An 8-year-old girl with the classic findings of keratoderma hereditaria mutilans (Vohwinkel's syndrome) was seen. Treatment with isotretinoin was instituted to decrease the hyperkeratosis and to prevent further autoamputation. After a 12-week course at 2 mg per kg per day, the patient had only minimal decrease in the amount of hyperkeratosis. Because of the well-known long-term risks of systema...

A 10-month-old female presented with severe progressive wedge-shaped thickening and discoloration of all twenty nails. Further evaluations revealed palmoplantar keratoderma along with recurrent acral blisters causing residual crusted ulcers which were present during the past six months. Other findings include scalp kinky hair and dental caries. Patient history was remarkable for natal tee...

palmoplantar keratoderma in patients from PPK01. Note the typical clinical presentation of more punctate lesions on the palms and more confluent lesions on the soles, demonstrating increased hyperkeratinization from mechanical trauma. (B) The pedigree for Israeli family PPK01 with sequencing results indicated below the patients (+ indicates wild-type,-indicates mutation). White indicates unaffe...