Chondrodysplasia calcificans congenita Q77.3

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

CDPX2); Chondrodysplasia (foetalis) calcarea; Chondrodysplasia punctata Type 2; Chondrodystrophia calcificans congenita; chondrodystrophia punctata; Conradi-Hünermann-Happle syndrome; Conradi-Hünermann syndrome; OMIM: 302690

History
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Conradi, 1914; Hünermann, 1931

Definition
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X-linked dominant inherited skeletal dysplasia, neonatal characterized by spatter-like calcifications.

Etiopathogenesis
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mutations in the EBP gene (emopamil-binding protein gene) in the chromosome region Xp11.23-p11.22. The gene codes for the emopamil-binding protein, which has the function of a sterol isomerase in the cholesterol biosynthetic pathway and converts 8,9-cholesten-ol into lathosterol. The mosaic-like skin, skeletal and eye changes are an expression of different inactivation of the two X chromosomes in women.

Manifestation
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Exclusively occurs in girls, as a lethal factor for the male sex.

Clinical features
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  • Contractures, diminutive growth with asymmetrical shortening of the tubular bones, later scoliosis, eye changes (cataracts, more rarely microphthalmia, glaucoma, optic atrophy, synechia), various striped, vertebral or spotted skin changes. Congenital ichthyosiform erythroderma, pigment anomalies, partial alopecia, occasionally anomalies of finger and toe nails.
  • Radiological findings: Visible in the radiograph are asymmetrically arranged, punctiform calcifications in the epiphyses of the tubular bones, hand and tarsal bones, periarticular, vertebral, occasionally also in the tracheal cartilage.
  • In the most severe cases death at or shortly after birth (lethal form of X-linked dominant chondrodysplasia punctata).

Histology
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Orthohyperkeratosis, reduced stratum granulosum, mostly single layered.electron microscopy: Vacuolisation with inclusions of needle-like bodies in the keratinocytes.

Differential diagnosis
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Literature
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  1. Conradi E (1914) Premature occurrence of bone and peculiar calcification nuclei in hypoplastochrome chondrodystrophia foetalis. Yearb Pediatrics 80: 86-97
  2. Happle R (1979) X-linked dominant chondrodysplasia punctata. Hum Genet 53: 65-73
  3. Hünermann C (1931) Chondrodystrophia calcificans congenita as abortive form of chondrodystrophy. Z Pediatrics 51: 1-19
  4. Lindenthal B et al (2004) Serum lipid analysis confirms the diagnosis of X-linked dominant chondrodysplasia punctata - Conradi-Hunermann-Happle syndrome. Clin Clin Padiatr 216: 67-69
  5. Manzke H, Christophers E, Wiedemann HR (1980) Dominant sex-linked inherited chondrodysplasia punctata. A distinct type of chondrodysplasia punctata. Clin Genet 16: 97-107
  6. Shwayder T (2004) Disorders of keratinization: diagnosis and management. At J Clin Dermatol 5: 17-29

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Last updated on: 29.10.2020