Meleda disease |
Keratosis extremitatum hereditaria transgrediens et progrediens; Mal de Meleda; Mljet disease | Onset: early infancy | Autosomal recessive |
Keratoderma with erythematous border, hyperhidrosis, periorbital erythema, lingua plicata, syndactyly, hairy palms and soles | Gene map locus: 8qter Greither variant: autosomal dominant |
Palmoplantar keratoderma with periodontitis and onychogryposis | Haim Munk syndrome; prepubertal periodontitis syndrome | Onset: 1-5 years | Autosomal recessive |
Periodontosis, disorder of leukocyte function (increased infections), hyperhidrosis, malodor, lipid-like vacuoles in corneocytes and granulocytes | Gene map locus: 11q14-q21 |
Palmoplantar keratoderma with periondotopathia | Papillon-Lefèvre syndrome | | |
PPK mutilans Vohwinkel | Mutilating keratoderma; Vohwinkel syndrome; palmoplantar keratoderma mutilans | Onset: infancy | Autosomal dominant |
Fibrous digital bands with progressive autoamputation, alopecia, deafness, spastic paraplegia, myopathy, ichthyosis | Gene map locus: 1q21 |
Palmoplantar keratoderma with sclerodactyly | Huriez syndrome | Onset: infancy | Autosomal dominant |
Sclerodactyly, nail dystrophy, hypohidrosis, squamous cell carcinomas |
Biopsy: acanthosis, orthohyperkeratosis |
Mutilating palmoplantar keratoderma with periorificial keratotic plaques | Olmsted syndrome | Onset: <1 year | Autosomal dominant |
Onychodystrophy, periorificial keratosis, variable leukokeratosis |
Hidrotic ectodermal dysplasia | Clouston syndrome | Onset: infancy | Autosomal dominant |
Papillomatous PPK, dystrophic nails, sparse hair, deafness, polydactyly, syndactyly, mental retardation, short stature, photophobia, strabismus | Gene map locus: 13q11-q12.1 |
Caused by depletion of hair matrix protein | |
Palmoplantar keratoderma and cardiomyopathy | Naxos disease | Diffuse NEPPK, arrhythmogenic right ventricular cardiomyopathy, woolly hair | Gene map locus: 17q21 |
Diffuse NEPPK and sensorineural deafness | | Progressive hearing loss preceding skin disorders | Autosomal dominant |
Connexin 26 mutation |