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Results: 3

1.

Ichthyosis, Congenital, with Trichothiodystrophy

MedGen UID:
355731
Concept ID:
C1866505
Disease or Syndrome
2.

Photosensitive trichothiodystrophy

Trichothiodystrophy (TTD) is a term introduced by Price et al. (1980) for sulfur-deficient brittle hair. Patients with trichothiodystrophy have brittle hair and nails (because of reduced content of cysteine-rich matrix proteins), ichthyotic skin, and physical and mental retardation. Approximately half of the patients display photosensitivity, correlated with a nucleotide excision repair (NER) defect. See 234050 for a discussion of nonphotosensitive trichothiodystrophy (TTDN1). As is the situation with Cockayne syndrome (216400), no cases of skin cancer had been reported with trichothiodystrophy (Itin and Pittelkow, 1990; Stary and Sarasin, 1996). [from OMIM]

MedGen UID:
355730
Concept ID:
C1866504
Disease or Syndrome
3.

Recessive congenital ichthyosiform erythroderma

A syndrome of trichothiodystrophy (sulfur-deficient brittle hair) with photosensitivity, ichthyosiform erythroderma, progeria-like facies, growth and mental retardation, occasional infertility, and variable other defects. When photosensitivity is present, the syndrome is known as PIBIDS or PIBI(D)S; without photosensitivity it is referred to as IBIDS. Syndromes which have brittle hair, impaired intelligence, decreased fertility, and short stature, but no ichthyosis, are referred to as BIDS (see Amish brittle hair syndrome). [from MCA/MR]

MedGen UID:
96589
Concept ID:
C0432267
Disease or Syndrome

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