Autosomal‐recessive aplasia cutis congenita—report of two affected sibs

Abstract

Recently Carmi et a1 [1982] reported on two sibs with aplasia cutis congenita (ACC). They were born to consanguineous parents; and the disorder was thought to represent an autosomal-recessive trait. The phenotype consisted of extensive absence of skin, ear anomalies, small nose, hypoplastic nails, and pyloric atresia. We report on another set of affected sibs who seem to have the same disorder. CASE REPORTSThese sibs were born to white, unrelated parents. The first was a male born at 32-33 weeks; the pregnancy had been complicated by polyhydramnios. At delivery brown amniotic fluid was noted. The skin appeared extensively eroded, and much of it slipped off during the vaginal delivery. Other anomalies present were wide skull sutures, narrow palpebral fissures, hypoplastic nose, micrognathia, apparently lowset, malformed ears, breast hypertrophy, flexed upper and lower limbs, overlapping fingers, and bilateral simian crease, these last three findings suggesting presence of an arthrogryposis. Chromosomes were normal. The child died at 3 days of respiratory distress and renal failure. Autopsy showed a patent ductus arteriosus, enlarged liver, and elongated kidneys.The affected sister was born 3 years later at 30 weeks. She also had the extensive skin defect and large fontanels, narrow palpebral fissures, hypoplastic nose, submucous cleft palate, micrognathia, apparently low-set, malformed ears, joint contractures, and rocker bottom feet (arthrogryposis). Chromosomes were normal. The child died at 6 days of respiratory distress. Autopsy showed fetal lobulation and infarction of the kidneys and retarded brain development with immature gyral pattern.

Restrictive dermopathy: Report and review

“…The lack of elastic fibers in the thinner dermis causes a rigidity and vulnerability of the skin and impairs fetal Toriello, 1983Toriello, 1983Toriello, 1986Holbrook, 1987Schnur, 1985Schnur, 1985Lowry, 1985Lowry, 1985Lowry, 1985Lowry, 1985Witt, 1986Holbrook, 1987Witt, 1986Holbrook, 1987Gillerot, 1987Mok, 1990Mok, 1990Mok, 1990 Patient number 1 £ 2 £ 3 4 £ 5 6 £ 7 8 9 1 0 £ 11 12 VanHoestenberghe, 1990Pierard-F., 1992Welsh, 1992Welsh, 1992Paige, 1992Bergmann, 1993Dean, 1993Dean, 1993Reed, 1993 Our movement. Structural deformities, seen in restrictive dermopathy and other FADS [Hammond and Donnenfeld, 1995], may be secondary to this intrauterine immobility, as Moessinger [1983] showed.…”

“…Credit for the first clinical description of restrictive dermopathy is usually given to Toriello et al [1983], who presented two affected sibs initially as having aplasia cutis congenita. Three years later-in the meanwhile a third affected sib was bornthe diagnosis of restrictive dermopathy was assigned retrospectively [Toriello, 1986].…”

Cutaneous scar at anterior hair line in mother and child with associated frontal bone defect in child

“…Familial occurrence of this disorder is now well established with autosomal dominant transmission the most frequent pattern [Sybert, 19851. Recessively inherited cases have been associated with other facial or skeletal abnormalities [Toriello, 1983;Carmi, 19821. Variation in severity of clinical manifestations is considerable in the autosomal dominant form.…”

Restriktive Dermopathiey

“…Geschaffen wurde der Terminus 1986 von Witt et al [32], nachdem bereits mehrere Fälle unter verschiedenen Namen, wie z.B. Aplasia cutis congenita [2,15,26] oder letale Ichthyosis [22], in der Literatur veröffentlicht worden waren [16]. Gleichzeitig erfolgte damit eine eindeutige Abgrenzung dieser Entität von anderen mit fetaler Akinesie/Hypokinesie Sequenz einhergehenden Krankheiten [18].…”

“…Eindeutige histologische Veränderungen treten erst nach der 20.-22. SSW auf [8,10,17,21], wenn die mesenchymale Entwicklung der Dermis und die Keratinisation der Epidermis sich dem Ende zuneigt [26,27]. Hamel und Mitarbeiter berichten über einen Fall, in dem fetale Hautbiopsien in der 20.…”