Junctional Epidermolysis bullosa with Urethral Stricture

Ichiki, Mikio; Kasada, Mamoru; Hachisuka, Hiroshi; Sasai, Yoichiro

doi:10.1159/000248912

Cited by 17 publications

(6 citation statements)

References 7 publications

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“…Mucosal involvement with blistering and erosions may result in scarring of the oropharyngeal tract. Nail dystrophy develops with age, and symblepharon (adhesion of the eyelids to the eyeball), urethral stricture, laryngeal webs, brain atrophy, and infantile respiratory complications have also been reported (Ichiki et al, 1987;Mellerio et al, 1997;Fine et al, 2000). Late-onset muscular dystrophy characterized by progressive muscle weakness is also part of the syndrome (Fine et al, 2000).…”

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confidence: 99%

Identification of a Lethal Form of Epidermolysis Bullosa Simplex Associated with a Homozygous Genetic Mutation in Plectin

Bonduelle

Raeve

Charlesworth

et al. 2003

Journal of Investigative Dermatology

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Genetic mutations in plectin, a cytoskeleton linker protein expressed in a large variety of tissues including skin, muscle, and nerves, cause epidermolysis bullosa simplex with muscular dystrophy, a recessive inherited disease characterized by blistering of the skin and late onset of muscular dystrophy, and Ogna epidermolysis bullosa simplex, a rare dominant inherited form of epidermolysis bullosa simplex with no muscular involvement. Here we report a novel homozygous genetic mutation (2727del14) in the plectin gene (PLEC1) associated with a lethal form of recessive inherited epidermolysis bullosa in a consanguineous family with three affected offspring. This new clinical variant of epidermolysis bullosa is characterized by general skin blistering, aplasia cutis of the limbs, developmental complications, and rapid demise after birth. Mutation 2727del14 is the first genetic defect described in PLEC1 that disrupts the plakin domain of plectin. The severe phenotype of the patients may be linked to the role of the N-terminal domain in the function of plectin and develops the understanding of the genotype-phenotype correlations in the genodermatoses affecting the dermal-epidermal junction.

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confidence: 99%

Identification of a Lethal Form of Epidermolysis Bullosa Simplex Associated with a Homozygous Genetic Mutation in Plectin

Bonduelle

Raeve

Charlesworth

et al. 2003

Journal of Investigative Dermatology

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“…A hoarse cry in a blistering infant has until now been considered indicative of JEB with a poor prognosis. 19 – 23 …”

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Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential

Shemanko

Horn²,

Keohane

et al. 2000

British Journal of Dermatology

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The clinical features of the Dowling-Meara variant of epidermolysis bullosa simplex (EBS-DM) can, in an infant, be indistinguishable from other severe forms of epidermolysis bullosa (EB). Two unrelated infants with no family history of skin disease are described who, within hours of birth, developed extensive blistering of skin and oral mucosae and who both subsequently developed hoarse cries. Despite this superficial resemblance to other forms of EB, electron microscopy revealed a basal cell rupture and keratin aggregates characteristic of EBS-DM in the skin of both infants and in the vocal cord epithelium of one. Molecular analysis confirmed the diagnosis by identification of mis-sense point mutations in basal cell keratin genes in both cases. One patient carries a point mutation in keratin 14 (converting arginine at position 125 to histidine) and the other has a novel point mutation in keratin 5 (converting serine at position 181 to proline). Hoarseness is not a well documented feature of EBS-DM and is usually associated with junctional EB. These two patients demonstrate that the presence of a hoarse cry in an infant affected by severe EB does not necessarily indicate a poor prognosis.

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“…However, in this case the patient presented with CRF which could have been due to many causes. GABEB may be accompanied by strictures, following erosions in the urinary tract 7,8 or other renal dysfunction. 9 Moreover, in Heritz JEB and dystrophic EB, urological complications such as genitourinary tract stricture, 10 secondary renal amyloidosis, 11 post‐infectious glomerulonephritis 12 and IgA glomerulonephritis 13 have all been reported.…”

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confidence: 99%

Generalized atrophic benign epidermolysis bullosa - poor prognosis associated with chronic renal failure

Woo

Lee

Kim

et al. 2000

Clinical and Experimental Dermatology

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Generalized atrophic benign epidermolysis bullosa (GABEB) is an autosomal recessive form of junctional epidermolysis bullosa, with milder clinical features than the Herlitz subtype. A 25-year-old man presented with the clinical and histological findings of GABEB. At the initial visit, laboratory tests revealed that he also had chronic renal failure (CRF). Usually, GABEB has a good prognosis. However, in this case, the patient had CRF as an associated complication. He died of an intracranial haemorrhage combined with sepsis after 3 weeks of hospitalization. This case suggests that renal complications can occur in this relatively mild form of epidermolysis bullosa, and may contribute to morbidity and premature mortality.

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Junctional Epidermolysis bullosa with Urethral Stricture

Cited by 17 publications

References 7 publications

Identification of a Lethal Form of Epidermolysis Bullosa Simplex Associated with a Homozygous Genetic Mutation in Plectin

Identification of a Lethal Form of Epidermolysis Bullosa Simplex Associated with a Homozygous Genetic Mutation in Plectin

Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential

Generalized atrophic benign epidermolysis bullosa - poor prognosis associated with chronic renal failure

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