The generalized atrophic benign form of junctional epidermolysis bullosa. Experience with four patients in the United States

Non-Herlitz Junctional Epidermolysis bullosa without Hair Involvement Associated with BP180 Deficiency

“…Mucosal involvement, nail dystrophy and dental abnormalities are also present in JEB forms [1]. Follicular atrophy is a typical feature of GABEB and results in alopecia and sparsity or absence of body, pubic and axillary hair [2, 3, 4]. In all the different forms of JEB the blister cleavage plane is within the lamina lucida of the cutaneous basement membrane zone.…”

Generalized Atrophic Benign Form of Junctional Epidermolysis bullosa

“…Although oral mucosal blisters are com mon in patients with GABEB, other mucous membrane involvement has been reported to be absent or mild, such as 'dysphagy', vocal cord, laryngeal and esophageal lesions [5,[8][9][10]13]. But, to our knowledge, pyloric atresia, found in several cases of the Herlitz variant of JEB [17][18][19][20][21], has never been reported in GABEB.…”

“…The main clinical distinguish ing features can be summarized as: (1) con tinuous blistering since birth; (2) improve ment as the patient gets older; (3) atrophy in areas of repeated blistering but absence of dystrophy, severe scarring, milia and m utila tion, and (4) atrophic alopecia of the scalp and absence of pubic and axillary hair. It has to be noted that either circumscribed or diffuse alopecia, sparsity of pubic, axillary hair and of the eyelashes and eyebrows oc curred mainly after the age of 15 years [5,8,10,13], Additional features of GABEB included either dystrophic or absent nails as well as dysplasic teeth, dental enamel hypoplasia with frequent caries. Nevocytic nevi, shagreen-like and multiple papular nevocytic nevi, located on trunk and arms, may be an occasional feature of GABEB [5,8].…”

“…As pointed out by Palier et al [13], pa tients with GABEB should be distinguished from those few patients with the Hcrlitz var iant of JEB who survive into late childhood or adolescence, in whom areas of granula tion tissue develop periorally and at sites of traum a, and who show growth retardation and anemia [9,24]. Therefore, survival can not be the only criterion to distinguish the Herlitz form from the GABEB variant [13].…”

“…These types, except in the newly described cicatricial JEB [4], heal without severe scarring or milia, but atrophy may develop. About 20 cases of generalized JEB with more favorable prognosis have been reported in adults or teenagers [5][6][7][8][9][10][11][12][13]. This type of generalized benign JEB (GABEB) has been termed differently (ta ble I) [6,8,11,12].…”