KRT1 gene related symptoms and diseases

Alternate names

EPIDERMOLYTIC PALMOPLANTAR KERATODERMA Is also known as eppk, keratosis palmaris et plantaris familiaris, diffuse erythrodermic palmoplantar keratoderma, vÖrner type, epidermolytic palmoplantar keratoderma of voerner, keratosis of greither, ppke, epidermolytic palmoplantar keratoderma of vÖrner, diffuse erythrodermic

Description

Palmoplantar keratoderma (PPK) is a common hereditary cutaneous disorder characterized by marked hyperkeratosis on the surface of palms and soles (Hennies et al., 1995). PPK has been classified into diffuse, focal, and punctate forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994). Diffuse PPK develops at birth or shortly thereafter and involves the entire palm and sole with a sharp cutoff at an erythematous border; there are no lesions outside the volar skin, and, in particular, no follicular or oral lesions. In contrast, focal PPK is a late-onset form in which focal hyperkeratotic lesions develop in response to mechanical trauma; an important distinguishing feature is the presence of lesions at other body sites, e.g., oral and follicular hyperkeratosis (Stevens et al., 1996). Palmoplantar keratodermas can be further subdivided histologically into epidermolytic and nonepidermolytic PPK (Risk et al., 1994). Genetic Heterogeneity of Palmoplantar KeratodermaNonepidermolytic palmoplantar keratoderma (NEPPK ) is caused by mutation in the KRT1 gene. A focal form of NEPPK (FNEPPK1 ) is caused by mutation in the KRT16 gene (OMIM ). Another focal form, FNEPPK2 (OMIM ), is caused by mutation in the TRPV3 gene (OMIM ); mutation in TRPV3 can also cause Olmsted syndrome (OLMS ), a severe mutilating form of PPK. The diffuse Bothnian form of NEPPK (PPKB ) is caused by mutation in the AQP5 gene (OMIM ). The Nagashima type of nonepidermolytic diffuse PPK (PPKN ) is caused by mutation in the SERPINB7 gene (OMIM ).A generalized form of epidermolytic hyperkeratosis (EHK ), also designated bullous congenital ichthyosiform erythroderma (BCIE), is caused by mutation in the keratin genes KRT1 and KRT10 (OMIM ).For a discussion of punctate PPK, see {148600}; for a discussion of striate PPK, see {148700}.

Most common symptoms of EPIDERMOLYTIC PALMOPLANTAR KERATODERMA

• Neoplasm
• Abnormality of the dentition
• Clinodactyly
• Hyperhidrosis
• Hyperkeratosis

SOURCES: ORPHANET OMIM

Alternate names

AUTOSOMAL DOMINANT EPIDERMOLYTIC ICHTHYOSIS Is also known as bullous congenital ichthyosiform erythroderma of brock, epidermolytic ichthyosis, bie, bullous congenital ichthyosiform erythroderma, ehk, bullous erythroderma ichthyosiformis congenita of brocq, bcie, bullous ichthyosiform erythroderma, ichthyosis hystrix brocq

Description

Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI; see this term), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.

Most common symptoms of AUTOSOMAL DOMINANT EPIDERMOLYTIC ICHTHYOSIS

• Growth delay
• Hyperhidrosis
• Hyperkeratosis
• Weight loss
• Erythema

SOURCES: OMIM ORPHANET

Alternate names

NON-EPIDERMOLYTIC PALMOPLANTAR KERATODERMA Is also known as ppkne, nonepidermolytic palmoplantar keratoderma, autosomal dominant diffuse palmoplantar keratoderma, norrbotten type, neppk, diffuse palmoplantar keratoderma, bothnian type, keratoderma, nonepidermolytic palmoplantar, tylosis

Description

Non-epidermolytic palmoplantar keratoderma is characterised by a diffuse non-epidermolytic palmoplantar keratoderma with frequent fungal infections. Prevalence in the general population is estimated at 1 in 40,000 but is much higher in northern Sweden (0.3-0.55%). Transmission is autosomal dominant and the causative gene has been localised to chromosome 12q11-q13.

Most common symptoms of NON-EPIDERMOLYTIC PALMOPLANTAR KERATODERMA

• Hyperkeratosis
• Erythema
• Papule
• Pruritus
• Palmoplantar keratoderma

SOURCES: ORPHANET OMIM

Alternate names

ICHTHYOSIS HYSTRIX OF CURTH-MACKLIN Is also known as ichthyosis hystrix, curth-macklin type

Description

Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term).

Most common symptoms of ICHTHYOSIS HYSTRIX OF CURTH-MACKLIN

• Flexion contracture
• Abnormality of metabolism/homeostasis
• Hyperkeratosis
• Nail dystrophy
• Ichthyosis

SOURCES: ORPHANET MESH OMIM

Alternate names

KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3 Is also known as kpps3, keratoderma, palmoplantar, striate form iii, striate palmoplantar keratoderma iii, sppk3

Most common symptoms of KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3

• Palmoplantar keratoderma

SOURCES: OMIM MESH

Alternate names

CONGENITAL RETICULAR ICHTHYOSIFORM ERYTHRODERMA Is also known as iwc, crie, ichthyosis with confetti, ichthyosis variegata

Description

Congenital reticular ichthyosiform erythroderma (CRIE), also known as ichthyosis with confetti (IWC), is a rare skin condition characterized by slowly enlarging islands of normal skin surrounded by erythematous ichthyotic patches in a reticulated pattern. The condition starts in infancy as a lamellar ichthyosis, with small islands of normal skin resembling confetti appearing in late childhood and at puberty. Histopathologic findings include band-like parakeratosis, psoriasiform acanthosis, and vacuolization of keratinocytes with binucleated cells in the upper epidermis, sometimes associated with amyloid deposition in the dermis. Ultrastructural abnormalities include perinuclear shells formed from a network of fine filaments in the upper epidermis (summary by Krunic et al., 2003).

Most common symptoms of CONGENITAL RETICULAR ICHTHYOSIFORM ERYTHRODERMA

• Hyperkeratosis
• Erythema
• Ichthyosis
• Palmoplantar keratoderma
• Epidermal acanthosis

SOURCES: ORPHANET OMIM MESH

Alternate names

ANNULAR EPIDERMOLYTIC ICHTHYOSIS Is also known as ciehk, epidermolytic ichthyosis, annular, aei

Description

Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI; see this term) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities.

Most common symptoms of ANNULAR EPIDERMOLYTIC ICHTHYOSIS

• Hyperkeratosis
• Erythema
• Ichthyosis
• Palmoplantar hyperkeratosis
• Erythroderma

SOURCES: OMIM MESH ORPHANET

Alternate names

STRIATE PALMOPLANTAR KERATODERMA Is also known as keratosis palmoplantaris striata et areata, keratosis palmoplantaris varians of wachters, keratosis palmoplantaris striata

Description

Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed.

Most common symptoms of STRIATE PALMOPLANTAR KERATODERMA

• Palmoplantar keratoderma
• Abnormality of the hair
• Abnormality of the nail

SOURCES: ORPHANET