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Items: 7

1.

Epidermolysis bullosa simplex with mottled pigmentation

Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy. [from GeneReviews]

MedGen UID:
140934
Concept ID:
C0432316
Congenital Abnormality
2.

Hypopigmentation-punctate palmoplantar keratoderma syndrome

Cole disease is a rare autosomal dominant disorder characterized by congenital or early-onset punctate keratoderma associated with irregularly shaped hypopigmented macules, which are typically found over the arms and legs but not the trunk or acral regions. Skin biopsies of palmoplantar lesions show nonspecific changes including hyperorthokeratosis, hypergranulosis, and acanthosis. Hypopigmented areas of skin, however, reveal a reduction in melanin content in keratinocytes but not in melanocytes, as well as hyperkeratosis and a normal number of melanocytes. Ultrastructurally, melanocytes show a disproportionately large number of melanosomes in the cytoplasm and dendrites, whereas keratinocytes show a paucity of these organelles, suggestive of impaired melanosome transfer (summary by Eytan et al., 2013). Some patients also exhibit calcinosis cutis or early-onset calcific tendinopathy (Eytan et al., 2013). [from OMIM]

MedGen UID:
816111
Concept ID:
C3809781
Disease or Syndrome
3.

Acrokeratosis verruciformis of Hopf

Acrokeratosis verruciformis of Hopf (AKV) is a localized disorder of keratinization affecting the distal extremities. Onset occurs early in life (Dhitavat et al., 2003). [from OMIM]

MedGen UID:
75589
Concept ID:
C0265971
Congenital Abnormality; Disease or Syndrome
4.

Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome

A rare genetic skin disease characterized by generalized skin peeling, leukonychia, acral punctate keratoses coalescing into focal keratoderma on the weight-bearing areas, angular cheilitis and knuckle pads with multiple hyperkeratotic micropapules. The skin appears dry and scaly with superficial exfoliation and underlying erythema. Histopathologic examination of affected skin areas shows hyperkeratosis, acanthosis and intraepidermal clefting with irregular acantholysis. Additional systemic abnormalities are absent. [from SNOMEDCT_US]

MedGen UID:
902464
Concept ID:
C4225381
Disease or Syndrome
5.

Punctate palmoplantar keratoderma type 1

A very rare hereditary skin disease with manifestation of irregularly distributed epidermal hyperkeratosis of the palms and soles. Reported in 35 families worldwide to date. The lesions usually start to develop in early adolescence but can also present later in life. Mutations in the AAGAB gene (15q22.33-q23) have recently been identified as one of the causes. Mutations in the COL14A1 gene (8q23) have also been identified as causal in some cases in Asia that seem to have a similar phenotype [from SNOMEDCT_US]

MedGen UID:
372099
Concept ID:
C1835662
Disease or Syndrome
6.

Palmoplantar keratoderma, punctate type ib

MedGen UID:
767059
Concept ID:
C3554145
Disease or Syndrome
7.

Punctate palmoplantar hyperkeratosis

A palmoplantar keratosis characterized by keratoses with a "raindrop" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution. [from MONDO]

MedGen UID:
870406
Concept ID:
C4024851
Disease or Syndrome
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