Rare: less than 80 cases have been described. Congenital genodermatosis, belonging to the laminopathies. It is due to a de novo mutation or the autosomal recessive transmission of

-        a mutation of the ZMPSTE24 gene (1q34.2): type 1 restrictive dermopathy, or 'secondary' laminopathy [MIM 275 210]

-        a mutation of the LMNA gene (1q22): type 2 restrictive dermopathy or 'primary laminopathy' [MIM 619 793]

A defect of the ZMPSTE24 gene interferes with the transformation of prelamine A into lamine A, a protein of the nuclear membrane. This results in intranuclear accumulation of prelamin A leading to toxic effects.

Diagnosis:        clinical presentation and histology: thin dermis with little or no skin appendages, abnormally dense collagen bundles parallel to the basal membrane of the epidermis and almost total absence of elastin).

In general, baby collodion appearance (see this term) at birth with:

-      premature birth (30-32 weeks gestation) due to premature rupture of the membranes in a context of polyhydramnios and fetal hypokinesia or akinesia

-          the body is covered with a thin, rigid, translucent and brittle skin that tears very easily; the veins are very apparent.

-          facial dysmorphism:  small mouth (in O-shape) with inexpressive facies, microretrognathia, very narrow nostrils (sometimes choanal atresia), rare or absent eyelashes and eyebrows, ectropion, low-set ears

-        multiple arthrogryposis (see this term) with a narrow chest, rocker-bottom feet, joint contractures, osteopenia, dysplasic clavicles

-          pulmonary hypoplasia with hypoxemia

-          sometimes: anonychia, neonatal teeth, ASD, persistent ductus arteriosus, hypospadias

-         no associated brain abnormalities

Prenatal diagnosis: difficult because the signs are not specific. Intrauterine growth retardation, reduced fetal mobility, mouth in O-shape.

Management: symptomatic treatment: gavage or parenteral feeding, ventilation, broad-spectrum antibiotics, analgesia.

Usual death in the first days of life

Anesthetic implications:

difficult venous access, difficult mask ventilation and intubation, difficulty to secure tubes and catheters. Hypothermia and dehydration. Extremely fragile skin. It is recommended to apply the same precautions as in case of epidermolysis bullosa (see this term and collodion baby)

References : 

-        Bidier M, Salz M, Meyburg J, Elbe-Bürger A et al.
Restrictive dermopathy: four case reports and structural skin changes.
Acta Derm Venereol 2018; 98: 807-8

-        Janardhanan AK, Sasidharanpillai S, Vdya AS, Francis B et al.
Restrictive dermopathy: report of two cases.
Ind J Paediatr Dermatol 2019; 19: 360-2

Updated: November 2022