Uncommon Congenital Abnormalities of the Skin

Newcomer, Victor D.; Zeilenga, Robert H.; Sternberg, Thomas H.

doi:10.1016/s0031-3955(16)30404-7

Pediatric Clinics of North America

1956

DOI: 10.1016/s0031-3955(16)30404-7

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Uncommon Congenital Abnormalities of the Skin

Victor D. Newcomer

Robert H. Zeilenga

Thomas H. Sternberg

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1959

1977

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Cited by 5 publications

(2 citation statements)

References 33 publications

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“…Two patients, a brother and sister, with stricture of the oesophagus due to the disease are described. The strictures were treated by resection and end-to-end oesophageial anastomosis and the patients have been relieved of dysphagia for the subsequent three years.Epidermolysis bullosa is a rare chronic hereditary disorder involving the skin and mucous membranes characterised by the development of bullae, which may appear spontaneously or as a result of trauma.Two main types of epidermolysis bullosa are recognised (Newcomer et al, 1956;Schnyder and Eichhoff, 1964;Gedde-Dahl, 1971). The simple type occurs mainly in infants and rarely affects the mucosae.…”

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Oesophageal reconstruction for complete stenosis due to dystrophic epidermolysis bullosa.

Sehhat¹,

Amirie²

1977

Thorax

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Sehhat, S. and Amirie, S. A. (1977). Thorax, 32,[697][698][699]. Oesophageal reconstruction for complete stenosis due to dystrophic epidermolysis bullosa. Oesophageal involvement in epidermolysis bullosa is discussed. Two patients, a brother and sister, with stricture of the oesophagus due to the disease are described. The strictures were treated by resection and end-to-end oesophageial anastomosis and the patients have been relieved of dysphagia for the subsequent three years.Epidermolysis bullosa is a rare chronic hereditary disorder involving the skin and mucous membranes characterised by the development of bullae, which may appear spontaneously or as a result of trauma.Two main types of epidermolysis bullosa are recognised (Newcomer et al., 1956;Schnyder and Eichhoff, 1964;Gedde-Dahl, 1971). The simple type occurs mainly in infants and rarely affects the mucosae. In the second type, hyperplastic and dystrophic epidermolysis bullosa, the mucosae are involved in 23% of patients. In addition, a third less common and more serious type has been described, namely, polydysplastic epidermolysis bullosa.Involvement of the oesophagus during the course of epidermolysis bullosa is uncommon. Nix and Christianson (1965) Eight years later the oesophagus was completely obstructed and the patient was unable to swallow saliva. A gastrostomy was done. One year later, at the time of his admission to hospital, a barium swallow showed an almost complete stenosis just below the pharyngo-oesophageal junction (Fig. 1). He was operated on through an oblique incision on 697 on 9 May 2018 by guest. Protected by copyright.

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“…Two main types of epidermolysis bullosa are recognised (Newcomer et al, 1956;Schnyder and Eichhoff, 1964;Gedde-Dahl, 1971). The simple type occurs mainly in infants and rarely affects the mucosae.…”

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confidence: 99%

Oesophageal reconstruction for complete stenosis due to dystrophic epidermolysis bullosa.

Sehhat¹,

Amirie²

1977

Thorax

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Incontinentia Pigmenti (Bloch-Sulzberger Syndrome)

Mendelsohn¹

1959

AMA Am J Dis Child

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Incontinentia pigmenti is a rare disease.Because it is regarded as a dermatologic problem, few cases have been reported in the pediatric literature. This case is presented to illustrate the multisystem involvement which may be seen in the infant. Report of CaseA 9-month-old white girl was admitted to Michael Reese Hospital on Feb. 28, 1957. The family history was negative, the mother had not been ill during pregnancy, and the delivery was normal. The history of illness dates from the second day of life, when a generalized vesicular eruption appeared and a diagnosis of epidermolysis bullosa was considered. She was treated with oral hydrocortisone (Cortef) and Mazon (a combination of phenolic substances and organic mercury compound) and Terra-Cortril (an ointment containing 3% oxytetracycline HCl and 1% hydrocortisone, free alcohol) ointments. She was also placed on hypoallergenic soya formula (Sobee) feedings. As the bullae disappeared, a generalized eruption was noted consisting of purpuric, urticarial, papular, and warty characteristics. The child did well until age 5 months. She gained satisfactorily in both height and weight, had good head control, and was able to sit without support.Her cutaneous lesions aroused interest, and she was presented before a meeting of the Indiana Dermatological Society. The diagnoses suggested were incontinentia pigmenti and pachyonychia congenita.* At age 5 months she developed a tem¬ perature of 105 F, a bulging fontane!, and con¬ vulsions, and she was hospitalized. Spinal fluid examination revealed pleocytosis, mostly lympho¬ cytes, an elevated protein, and normal glucose. Bacteria and fungi were not found on smear or culture. No fluid was obtained on subdural tap.At this time pox-like lesions were noted on the forehead, and smears of these revealed inclusion bodies when stained with Giemsa's reagent. A serum complement-fixation titre of 1 :64 for herpes sim¬ plex was obtained at the laboratories of the State Board of Health, Indianapolis. Treatment with chloramphenicol and penicillin was started and continued until an intermediate strength and second strength P. P. D. were found positive. At this time isoniazid (INH) and streptomycin were started and continued for three months. She was then transferred to the Indiana University Medical Center for further evaluation. The diagnosis at the time of transfer was incontinentia pigmenti and possible chronic pachymeningitis due to herpes simplex. Significant findings on this hospital admis¬ sion were streaked pigmentations located on the trunk and extremities, strabismus, nystagmus, optic atrophy, poor head control, mild opisthotonos, hyperactive tendon reflexes, a wailing cry, and a right hemiparesis. Subdural taps were performed, yielding substantial amounts of bloody fluid from the right side and clear fluid from the left, with a high lymphocyte count. Several lumbar punctures again showed pleocytosis, elevated protein, and negative culture for pyogenic and acid-fast organ¬ isms. An electroencephalogram revealed rather marked asymm...

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Epidermolysis Bullosa of the Esophagus

Dupree¹,

Hodges²,

Simon³

1969

Arch Pediatr Adolesc Med

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EPIDERMOLYSIS bullosa is a rare chronic hereditary disease of the skin and mucous membranes characterized by development of bullae following slight trauma. Newcomber et al1 described two main forms of the disease: simplex and dystrophic, the latter occurring in both dominant and recessive forms. This disease may involve internal organs lined with squamous epithelium as well as the skin. Esophageal changes have been described only in the recessive dystrophic form. To our knowledge only 19 children with the dystrophic form of epidermolysis bullosa have been reported, and none of these reports have appeared in the pediatric literature.2-5 The purpose of this report is to describe this complication in two siblings. Report of CasesCase 1.\p=m-\A 14-year-old white boy was the product of an uncomplicated pregnancy and delivery with a birth weight of 3,175 gm (7 lb). At birth he was denuded of epithelium distal to the knees, and had bullae on the oral mucosa, lips, and one hand. Since that time, he has had vesicles and bullae appear over various areas of the body which ruptured and eventually scarred. The child perspired normally. Various local ther¬ apies have been applied to the lesions; and oc¬ casionally when infection was present, systemic antibiotics were utilized. By the age of 5, he be¬ gan to gradually develop syndactyly of the fingers and toes with flexion contractures at the metacarpophalangeal and interphalangeal joints of the hands. Surgical release and grafting of flexion contractures of the right hand were per¬ formed at age 11 with subsequent recurrence of syndactyly and contractures. At the age of 13, progressive dysphagia developed. Family history revealed that his younger sister (case 2) also had this disease.Physical examination upon his most recent admission revealed fine, sparse hair, absence of nails, syndactyly of all digits, flexion contractures of metacarpophalangeal and interphalangeal joints of the hands, and severe dental caries. He had all stages of skin lesions (bullae, de¬ nuded areas, and atrophie scars). Cineesophagram was done (Fig 1).Case 2.-An 11-year-old white girl was the product of an uncomplicated pregnancy and de¬ livery with a birth weight of 3,402 gm (7 lb 8 ounces). Small areas denuded of epithelium were present on one hand and both knees at birth. By 1 month of age, she developed typical bullous lesions following slight trauma. By the age of 5 years, she began developing syndactyly of the digits of the hands and feet. This was followed by contractures of metacarpophalangeal and in¬ terphalangeal joints of the hands. She had no dysphagia, but had one episode of blood-streaked vomitus at the age of 10 years.Physical examination at that time revealed absence of nails, syndactyly of all digits, flexion contractures of metacarpophalangeal joints of hands, and moderately severe dental caries. She also demonstrated all stages of the typical skin lesions. Cine-esophagram was done (Fig 2). CommentTrauma to the esophageal mucosa by rough or hot foods produces bullae by causing separati...

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Uncommon Congenital Abnormalities of the Skin

Cited by 5 publications

References 33 publications

Oesophageal reconstruction for complete stenosis due to dystrophic epidermolysis bullosa.

Oesophageal reconstruction for complete stenosis due to dystrophic epidermolysis bullosa.

Incontinentia Pigmenti (Bloch-Sulzberger Syndrome)

Epidermolysis Bullosa of the Esophagus

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