Koraxitrachitic syndrome: a syndromic form of self-healing collodion baby with residual dappled atrophy of the derma.
We report on a child with a generalized skin disorder associated with other minor anomalies. At birth, the child presented as a collodion baby, with patchy erythema, generalized irregular dermal atrophy, alopecia, absent eyelashes and eyebrows, and conjunctival pannus. He also had hypertelorism, prominent nasal root, large mouth, micrognathia, brachydactyly, syndactyly involving all interdigital spaces, and camptodactyly of fingers III-V. The hyperkeratotic membrane thinned progressively, leaving a mottled reticulated skin atrophy, with patchy areas of yellowish hyperpigmentation and papyraceous areas. Hair and nails were dystrophic. Mental development was borderline normal. The histological hallmarks of the skin manifestations combined orthokeratotic hyperkeratosis and marked atrophy of the dermis. The dermal extracellular matrix was immature, and factor XIII-a positive dendrocytes were rare and globular rather than dendritic. We frame as a hypothesis that the disease is due to or associated with a defect in maturation of a subset of dermal dendrocytes during fetal life. This entity may be designed as the koraxitrachitic syndrome (kappaomicronrhoalphaxi:grapnel- taurhoalphachiiotatauepsilonsigma: roughness)
Verloes
A
A
Wallonia Center for Human Genetics, Liège University, Liège, Belgium. Alain.Verloes@chu.ulg.ac.be
Hermanns-Lê
T
T
Lesenfants
S
S
Lombet
J
J
Lamotte
P J
PJ
Crèvecoeur-Liégeois
C
C
Duchesne
B
B
Piérard
G E
GE
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D000328:Adult; D005260:Female; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D007231:Infant, Newborn; D008297:Male; D010859:Pigmentation Disorders / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D012868:Skin Abnormalities / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D013577:Syndrome