Severe infantile epidermolysis bullosa simplex. Dowling-Meara type

Buchbinder, L. H.

doi:10.1001/archderm.122.2.190

Cited by 23 publications

(8 citation statements)

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“…Very few EBS gen-sev cases with laryngeal involvement have been reported to date. [3][4][5] Respiratory symptoms should be managed conservatively as they tend to resolve spontaneously in infancy, as occurred in our patient, or by the age of two-three years. 5…”

Section: Discussionmentioning

confidence: 65%

Hoarse cry in a newborn with epidermolysis bullosa simplex, generalized severe

Diociaiuti

Giancristoforo

Pisaneschi

et al. 2020

Pediatric Dermatology

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Hoarse cry and respiratory stridor are the signs of potentially life‐threatening laryngeal involvement in selected severe and frequently early lethal subtypes of inherited epidermolysis bullosa (EB). We present a newborn with generalized skin blistering and onychodystrophy who developed a hoarse cry and inspiratory stridor. Ultrastructural skin examination revealed tonofilament clumping in basal keratinocytes and genetic testing identified the de novo missense mutation p.Arg125Cys in the KRT14 gene, consistent with EB simplex generalized severe, which is characterized by major morbidity in infancy but a favorable long‐term prognosis. The present case underlines the importance to consider EB simplex generalized severe in the differential diagnosis of EB infants presenting hoarseness and stridor.

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Section: Discussionmentioning

confidence: 65%

Hoarse cry in a newborn with epidermolysis bullosa simplex, generalized severe

Diociaiuti

Giancristoforo

Pisaneschi

et al. 2020

Pediatric Dermatology

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“…In epidermolysis bullosa, especially of Dowling‐Meara type, the hyperkeratosis is not present at birth but is usually progressive and worsens with age [Buchbinder et al, 1986]. The actual phenotype associating ulerythema ophryogenes and minor anomalies may suggest the cardio‐facio‐cutaneous (CFC) syndrome [Reynolds et al, 1986], but major clinical signs such as motor delay or cardiac anomalies are lacking.…”

Section: Discussionmentioning

confidence: 99%

Self‐healing congenital verruciform hyperkeratosis

Léauté‐Labrèze

Boralévi

Cony

et al. 2004

American J of Med Genetics Pt A

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We report on an apparently previously undescribed neonatal diffuse congenital hyperkeratosis with spontaneous improvement. The child, born to consanguinous parents, presented at birth with a verrucous hyperkeratosis involving face, trunk, and limbs, but sparing palms and soles. No visceral or skeletal abnormality was associated and neurosensory status was normal. The skin condition improved dramatically during the first month of life. At age 7 years, the child was healthy with normal psychomotor development and growth. He had an abnormal curvature of nose, ulerythema ophryogenes, and large ears. The skin was moderately dry. This favorable clinical outcome led us to propose the term "regressive congenital hyperkeratosis" until further molecular characterization of this new phenotype.

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“…Three major clinical subtypes, Weber‐Cockayne, Koebner, and Dowling‐Meara, have been characterized based on disease severity and ultrastructural findings. Palmo‐plantar hyperkeratosis is associated with disease severity in general, and is common in the patients with Dowling‐Meara, the most severe subtype of EBS (4). A mutation from methionine to threonine in the gene encoding the amino acid at position 119 at the beginning of the helix initiation motif has been reported in a patient with EBS Dowling‐Meara who presented a severe phenotype with palmo‐plantar hyperkeratosis (5, 6).…”

Section: Discussionmentioning

confidence: 99%

Severe Palmo‐Plantar Hyperkeratosis in Koebner Epidermolysis Bullosa Simplex

Shirakata

Tamai

Nakaoka

et al. 2003

The Journal of Dermatology

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A 22-year-old Japanese woman with Koebner epidermolysis bullosa simplex presented with severe palmo-plantar hyperkeratosis. Skin biopsy specimens from the palm revealed hyperkeratosis and acanthosis with blistering in the basal cell layer. An electron microscopic study showed cytolysis of basal cells and clumping of tonofilaments forming thick bundles and perinuclear electron-dense bodies. Hand contractures were released and covered with full thickness autografts or split thickness autografts. The donor site was successfully treated with cultured epidermal autografts.

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Severe infantile epidermolysis bullosa simplex. Dowling-Meara type

Cited by 23 publications

References 0 publications

Hoarse cry in a newborn with epidermolysis bullosa simplex, generalized severe

Hoarse cry in a newborn with epidermolysis bullosa simplex, generalized severe

Self‐healing congenital verruciform hyperkeratosis

Severe Palmo‐Plantar Hyperkeratosis in Koebner Epidermolysis Bullosa Simplex

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