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1.

Recessive dystrophic epidermolysis bullosa

Dystrophic epidermolysis bullosa (DEB) is characterized by skin fragility manifested by blistering and erosions with minimal trauma. Many individuals also have dystrophic or absent nails. DEB is divided into two major types depending on inheritance pattern: recessive dystrophic epidermolysis bullosa (RDEB) and dominant dystrophic epidermolysis bullosa (DDEB). Clinical findings in severe RDEB include skin fragility manifested by blistering and erosions with minimal trauma that heals with milia and scarring. Blistering and erosions affecting the whole body may be present in the neonatal period. Oral involvement may lead to mouth blistering, fusion of the tongue to the floor of the mouth, and progressive diminution of the size of the oral cavity and mouth opening. Esophageal erosions can lead to webs and strictures that can cause severe dysphagia. Malnutrition with vitamin and mineral deficiency may lead to growth deficiency in young children. Corneal erosions can lead to scarring and loss of vision. Blistering of the hands and feet followed by scarring results in contractures and pseudosyndactyly. The lifetime risk of aggressive squamous cell carcinoma (SCC) is greater than 90%. In contrast, the blistering in intermediate RDEB may be localized to hands, feet, knees, and elbows with or without involvement of flexural areas and the trunk, and without severe scarring. In DDEB, blistering is often mild and limited to hands, feet, knees, and elbows, but nonetheless heals with scarring. Dystrophic nails, especially toenails, are common and may be the only manifestation of DDEB. [from GeneReviews]

MedGen UID:
36311
Concept ID:
C0079474
Disease or Syndrome
2.

Lethal acantholytic epidermolysis bullosa

Lethal acantholytic epidermolysis bullosa (EBLA) is an autosomal recessive skin disorder characterized by extensive epidermal dislodgment, universal alopecia, and anonychia. Cardiac involvement may be present. Death occurs in the neonatal period (summary by Hobbs et al., 2010). [from OMIM]

MedGen UID:
400622
Concept ID:
C1864826
Disease or Syndrome
3.

Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive

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:
1794224
Concept ID:
C5562014
Disease or Syndrome
4.

Mitten deformity

Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a "mitten" hand deformity. [from HPO]

MedGen UID:
369963
Concept ID:
C1969236
Congenital Abnormality; Finding
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