[Herlitz syndrome and "pyloric atresia"]. / Herlitz-Syndrom und "Pylorusatresie".

The aetiological and pathogenic relation between junctional epidermolysis bullosa (Herlitz) and prepyloric and pyloric obstruction in newborns with junctional epidermolysis bullosa is still unknown. There are two different hypotheses; one suggesting two distinct genetically related disorders (namely junctional epidermolysis bullosa and congenital pyloric atresia), the other suggesting an intrauterine mucosal damage in junctional epidermolysis bullosa. We report two infants suffering from junctional epidermolysis bullosa, Herlitz-type, verified by electron microscopy, and from connatal prepyloric and pyloric obstruction. In both cases we could demonstrate proliferative inflammation at the prepyloric antrum and pylorus as the cause of the obstruction but no complete obliteration of the pyloric channel. These findings point to an intrauterine event impacting the mucosa of the gastrointestinal tract in patients with junctional epidermolysis bullosa of the Herlitz-type and don't comply with the hypothesis of two different but genetically related diseases.

[A case of congenital epidermolysis (an albopapuloid form)]. / Sluchaí vrozhdennogo épidermoliza (al'bopapuloidnaia forma).

A case of this rare disease is reported; the authors analyze the literature data and describe the clinical features and therapy of their patient.

Management of advanced foot deformities in dystrophic epidermolysis bullosa.

Treatment for the characteristic hand deformities of dystrophic epidermolysis bullosa has been well described in the literature. We present our first experience delineating the surgical treatment for advanced foot deformities in this disease. This case emphasizes the need for release of contractures, the use of split-thickness skin grafts, and the need for rigid fixation to maintain surgical correction until healing is complete.

Congenital self-healing (transient) mechanobullous dermatosis.

A neonate with a congenital mechanobullous disorder is described and compared with similar patterns from the literature. The blisters were subepidermal, remitted within a few months, and have not recurred on long-term follow-up. The relation of the congenital self-healing mechanobullous dermatoses to epidermolysis bullosa is unclear.

[Epidermolysis bullosa and congenital skin aplasia (Bart's syndrome). Report of 3 cases]. / Epidermolisis bulosa y aplasia cutis congénita (síndrome de Bart). Reporte de tres casos.

The association of epidermolysis bullosa (EB), congenital localized absence of skin and nail alterations like anonychia and dystrophy has been denominated Bart's syndrome, which was described nineteen years ago, and associated with simple, junctional and dystrophies epidermolysis bullosa. We explain in this study three cases, which because of their clinic characteristics will correspond to this new entity. All of these cases happened in the city of Trujillo, Peru.

Generalized epidermolysis bullosa with congenital synechiae, associated malformations and unusual ultrastructure: a new entity?

A male newborn presented at birth with marked skin fragility and widespread erosions of the face, scalp, trunk and extremities. Abnormal associated findings included: cleft palate, hypoplastic low-set ears, bilateral synechiae of the first and second toes, incomplete fusion of both eyelids, and dystrophic nails. There was no evidence of consanguineous parentage. The karyotype was normal. The baby died at 3 days of age because of pulmonary distress. As demonstrated by light and electron microscopy, there were both epidermolytic and dermolytic features. Desmosomes and tonofilaments were decreased in most basal cells. Hemidesmosomes were normal. Anchoring fibrils were rare. This type of epidermolysis bullosa does not fit any known categories of disease.

Generalized atrophic benign form of junctional epidermolysis bullosa.

There are at least six variants of junctional epidermolysis bullosa (JEB). About 20 cases of the generalized atrophic benign variant of JEB (GABEB) have been previously reported. We present an additional case of GABEB, occurring in a 14-year-old girl. Generalized cutaneous blisters occurred since birth and healed without severe scarring or milia, but with slight atrophy. In addition, mucous membrane involvement and hair, nail and tooth abnormalities were found. Electron microscopic examination showed a cleavage within the lamina lucida and the presence of numerically and structurally abnormal hemidesmosomes.

A congenital bovine epidermolysis resembling epidermolysis bullosa simplex of man.

Twenty-five of 72 calves sired by a Simmental bull were affected with a congenital skin disease which appeared to be inherited as an autosomal dominant trait. The affected calves showed hypotrichosis, erythema and breaks in the integrity of the skin. The distribution of the lesions and the ease with which excoriations occurred suggested an abnormal vulnerability to trauma. Mortality was high but in affected survivors the clinical signs moderated with age. Histopathologically, dermoepidermal separation and cytolysis of the germinal cell layer of the epidermis were seen. The name bovine epidermolysis is proposed and a relationship with epidermolysis bullosa simplex of man is suggested.

A case of epidermolysis bullosa dystrophicans with congenital esophageal atresia.

A two-hour-old female with epidermolysis bullosa hereditaria (EBH) and a congenital esophageal atresia at the level of the sixth thoracic vertebra is described. A tube gastrostomy was performed on day 3; she died of sepsis on day 6. On autopsy, esophageal atresia was membranous without any fistula.

Junctional epidermolysis bullosa, pyloric atresia, and genitourinary disease.

The occasional concurrence of junctional epidermolysis bullosa and pyloric atresia has been documented in the literature. Several infants reported as having this combined disorder were also noted to have significant genitourinary disease. We treated a 4 1/2-year-old boy with mild cutaneous manifestations of junctional epidermolysis bullosa, corrected pyloric atresia, and significant renal disease secondary to recurrent obstruction of the ureterovesical junction.

[Association of a pediatric bullous eruption, cutaneous and muscular atrophy, hyperpigmentation and dysmorphism. A new entity?]. / Association d'une éruption bulleuse de l'enfance, d'une atrophie cutanée et musculaire, d'une hyperpigmentation et d'un dysmorphisme. Entité nouvelle?

We report the case of a young patient who presented with dysmorphism, bullous eruption of childhood, cutaneous and muscular atrophy and hyperpigmentation. Attempts were made to find out where this case fits in the nosological framework. This young boy without any particular family history was born with facial dysmorphism consisting of micrognathia, right microphtalmos, gothic palate and left facial palsy of the peripheral type. At the age of 2 years and 9 months, generalized fragility of the skin appeared in the form of a recurrent bullous eruption. The bullae left numerous atrophic and depigmented scars; they spared the mucosae, and there was no photosensitivity. At the same time, generalized skin atrophy developed: the subcutaneous venous network was abnormally visible and there was diffuse hyperpigmentation. The hair was fine, curly and thin. The teeth dystrophic and abnormally positioned. The cornea of the right eye was invaded by conjunctiva. The bullous eruption subsided when the child was about 6 years' old, but the skin atrophy became worse and was accompanied with amyotrophy of the limbs and retraction in flexion of the joints at the extremities. Chronic ulcerations were present on the lower limbs. Statural and ponderal growth, as well as mental development were normal. The biochemical examinations performed revealed no abnormality. Light and electron microscopy of the skin showed a normal dermis-epidermis junction, but the anchorage fibres were rarefied. The dermal connective tissue was abnormal, with thin collagen fibres and disorganized fibrillae. Fibroblasts were hypoplastic and numerous. The elastic network was meagre and elastic fibres had a slashed appearance. Biopsy of a palmar nodule showed cheloid-like lesions. The nosological discussion involved some congenital bullous diseases and certain forms of connective tissue dystrophia. Among the bullous diseases, congenital poikiloderma, as described by Weary and Kindler, is unaccompanied with amyotrophy, articular retraction or dysmorphism. According to Verret et al., the bulla is located at the dermis-epidermis junction. Recessive dystrophic epidermolysis bullosa seems to differ from our case in that skin atrophy is localized and amyotrophy, dysmorphism and disorders of pigmentation are absent. In addition, we found no histological evidence of collagenolysis. Mendes Da Costa's bullous dystrophy can be excluded, as there was no nanism, microcephaly or diffuse alopecia in our patient. Among connective tissue dystrophias, acrogeria Ehlers-Danlos type IV syndrome does not include bullous eruption, amyotrophy or articular retraction.(ABSTRACT TRUNCATED AT 400 WORDS)