KRT5 gene related symptoms and diseases

Alternate names

LOCALIZED EPIDERMOLYSIS BULLOSA SIMPLEX Is also known as ebs-loc, epidermolysis bullosa simplex, weber-cockayne type, epidermolysis bullosa simplex of palms and soles

Description

Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.

Most common symptoms of LOCALIZED EPIDERMOLYSIS BULLOSA SIMPLEX

• Hyperhidrosis
• Nail dystrophy
• Bruising susceptibility
• Palmoplantar keratoderma
• Abnormal blistering of the skin

SOURCES: ORPHANET

Alternate names

EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED INTERMEDIATE Is also known as generalized ebs, non-dowling-meara type, epidermolysis bullosa simplex, kÖbner type, generalized epidermolysis bullosa simplex, non-dowling-meara type, ebs, generalized intermediate, epidermolysis bullosa simplex, koebner type

Description

Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Köbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction.

Most common symptoms of EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED INTERMEDIATE

• Failure to thrive
• Muscle weakness
• Ptosis
• Respiratory insufficiency
• Hyperhidrosis

SOURCES: ORPHANET

Alternate names

EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION Is also known as ebs-mp

Description

Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering with mottled or reticulate brown pigmentation.

Most common symptoms of EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION

• Nail dystrophy
• Bruising susceptibility
• Palmoplantar keratoderma
• Abnormal blistering of the skin
• Hypopigmented skin patches

SOURCES: ORPHANET

Alternate names

EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED SEVERE Is also known as epidermolysis bullosa simplex, herpetiformis, ebs, generalized severe, epidermolysis bullosa simplex, dowling-meara type

Description

Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.

Most common symptoms of EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED SEVERE

• Failure to thrive
• Feeding difficulties
• Constipation
• Nail dystrophy
• Palmoplantar keratoderma

SOURCES: ORPHANET

Description

Epidermolysis bullosa simplex (EBS) is a clinically and genetically heterogeneous group of disorders characterized by recurrent blistering and cleavage within basal keratinocytes. Most forms show autosomal dominant inheritance (see, e.g., {131800}, {131760}, and {131900}), but autosomal recessive inheritance has been described (Fine et al., 2008).

Most common symptoms of EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1; EBSB1

• Neoplasm
• Hyperkeratosis
• Abnormality of skin pigmentation
• Palmoplantar keratoderma
• Abnormal blistering of the skin

SOURCES: ORPHANET OMIM

Alternate names

EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBSMP Is also known as speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering

Most common symptoms of EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBSMP

• Nail dystrophy
• Bruising susceptibility
• Hypopigmentation of the skin
• Nail dysplasia
• Abnormal blistering of the skin

SOURCES: OMIM

Alternate names

EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED Is also known as ebs, generalized, epidermolysis bullosa simplex, koebner type

Description

Epidermolysis bullosa simplex (EBS) is a clinically and genetically heterogeneous skin disorder characterized by recurrent blistering of the skin following minor physical trauma as a result of cytolysis within basal epidermal cells. Most forms show autosomal dominant inheritance. The 3 main types include the generalized Koebner form, the more severe generalized Dowling-Meara form (OMIM ), and the localized, mild Weber-Cockayne form (OMIM ) (Fine et al., 2008). All 3 forms can be caused by mutation in the KRT5 or the KRT14 gene. See {601001} for a rare autosomal recessive form caused by mutation in the KRT14 gene.Davison (1965) referred to generalized distribution of bullous vesicles as epidermolysis simplex bullosa. The condition in which bullae were limited to the hands and feet was referred to as the Cockayne type of epidermolysis bullosa (OMIM ).On the basis of an extensive study in Norway and review of the literature, Gedde-Dahl (1971) arrived at a classification of epidermolysis bullosa. EB simplex in this classification encompassed disorders characterized by bulla formation within the epidermis, basal cell vacuolization, and dissolution of tonofibrils on electron microscopy. The generalized Koebner form and the localized Weber-Cockayne type were believed to be allelic. Gedde-Dahl (1981) recognized at least 16 varieties of epidermolysis bullosa and suggested that dominant EB simplex can be clinically and genetically divided into at least 4 types: the generalized Koebner type, the localized Weber-Cockayne type, the mild Ogna type with fragile skin (OMIM ), and a form with mottled pigmentation (OMIM ).Fine et al. (1991) provided a revised classification of the subtypes of inherited epidermolysis bullosa based on clinical and laboratory criteria.

Most common symptoms of EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED

• Fever
• Hyperkeratosis
• Nail dystrophy
• Nail dysplasia
• Abnormal blistering of the skin

SOURCES: OMIM

Alternate names

EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED Is also known as epidermolysis bullosa of hands and feet, epidermolysis bullosa simplex, weber-cockayne type, ebs, acral form

Description

Epidermolysis bullosa simplex is a clinically and genetically heterogeneous skin disorder characterized by blistering of the skin following minor physical trauma as a result of cytolysis within the basal epidermal cells. Most forms show autosomal dominant inheritance. The localized form is characterized by localized blistering primarily on the hands and feet (Pfendner et al., 2005). The other 2 main types of EBS include the milder generalized Koebner type (OMIM ) and the more severe Dowling-Meara type (OMIM ). All 3 forms can be caused by mutation in the KRT5 or KRT14 genes (summary by Fine et al., 2008).

Most common symptoms of EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED

• Hyperkeratosis
• Abnormal blistering of the skin
• Milia
• Palmoplantar blistering

SOURCES: OMIM

Alternate names

EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE; EBSDM Is also known as epidermolysis bullosa simplex, generalized severe, epidermolysis bullosa herpetiformis, dowling-meara type

Description

Epidermolysis bullosa simplex (EBS) is a clinically and genetically heterogeneous skin disorder characterized by recurrent blistering of the skin following minor physical trauma as a result of cytolysis within basal epidermal cells. Most forms show autosomal dominant inheritance. The Dowling-Meara type of EBS is the most severe form, with generalized blistering that often occurs in clusters (herpetiform), is often associated with hyperkeratosis of the palms and soles, and shows clumping of keratin filaments in basal epidermal cells. The other 2 main types of EBS include the milder generalized Koebner type (OMIM ) and the milder and localized Weber-Cockayne type (OMIM ) (Fine et al., 2008). All 3 forms can be caused by mutation in the KRT5 or the KRT14 gene. See {601001} for a rare autosomal recessive form caused by mutation in the KRT14 gene.

Most common symptoms of EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE; EBSDM

• Growth delay
• Anemia
• Hyperkeratosis
• Scarring
• Nail dystrophy

SOURCES: OMIM

Alternate names

DOWLING-DEGOS DISEASE Is also known as ddd, reticular pigment anomaly of flexures

Description

Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by reticular pigmentation, usually in a flexural distribution. However, generalized DDD can also occur, with numerous hypopigmented or erythematous macules and papules on the neck, chest, and abdomen. The histopathology of DDD shows characteristic thin branch-like patterns of epidermal downgrowth (summary by Li et al., 2013). Review of Reticulate Pigment DisordersMuller et al. (2012) reviewed the spectrum of reticulate pigment disorders of the skin, tabulating all reported cases of patients with Dowling-Degos disease, reticulate acropigmentation of Kitamura (RAK ), reticulate acropigmentation of Dohi (RAD ), Galli-Galli disease (GGD), and Haber syndrome (HS). Of 82 cases, 26 (31.7%) were clinically diagnosed as DDD, 13 (15.9%) as RAD, 11 (13.4%) as GGD, 8 (9.8%) as RAK, and 8 (9.8%) as HS; in addition, 16 (19.5%) of the cases showed overlap between DDD and RAK. Muller et al. (2012) also published photographs of an affected individual exhibiting an overlap of clinical features of DDD, GGD, RAD, and RAK. The authors noted that in reticulate disorders of the skin, the main disease entity is DDD, with a subset of cases exhibiting acantholysis (GGD), facial erythema (HS), or an acral distribution (RAD; RAK). Muller et al. (2012) concluded that all reticulate pigment diseases of the skin are varying manifestations of a single entity. Genetic Heterogeneity of Reticulate Pigment DisordersDowling-Degos disease-2 (DDD2 ) is caused by mutation in the POFUT1 gene (OMIM ) on chromosome 20q11. Dowling-Degos disease-3 (DDD3 ) has been mapped to chromosome 17p33.3. Dowling-Degos disease-4 (DDD4 ) is caused by mutation in the POGLUT1 gene (OMIM ) on chromosome 3q13. Dyschromatosis symmetrica hereditaria (DSH ), also known as reticulate acropigmentation of Dohi (RAD), is caused by mutation in the ADAR gene (OMIM ) on chromosome 1q21. Reticulate acropigmentation of Kitamura (RAK ) is caused by mutation in the ADAM10 gene (OMIM ) on chromosome 15q21.

Most common symptoms of DOWLING-DEGOS DISEASE

• Erythema
• Papule
• Acne
• Hypermelanotic macule
• Acantholysis

SOURCES: OMIM ORPHANET

Alternate names

EPIDERMOLYSIS BULLOSA SIMPLEX WITH CIRCINATE MIGRATORY ERYTHEMA Is also known as ebs-migr

Description

Epidermolysis bullosa simplex with circinate migratory erythema (EBS-migr) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema.

Most common symptoms of EPIDERMOLYSIS BULLOSA SIMPLEX WITH CIRCINATE MIGRATORY ERYTHEMA

• Erythema
• Scarring
• Skin rash
• Abnormality of skin pigmentation
• Skin vesicle

SOURCES: OMIM MESH ORPHANET