A classic case shows the mucocutaneous triad:
(1) abnormal skin pigmentation (lacy reticular pigmentation of upper chest and neck)
(2) nail dystrophy
(3) mucosal leukoplakia
Additional findings:
(1) eye changes (ectropion, entropion, epiphora, blepharitis, abnormal eyelashes, other)
(2) dental changes (caries and periodontal disease, taurodontism, decreased tooth root to crown ratio)
(3) hair changes (prematurely gray, alopecia)
(4) developmental delay
(5) short stature
(6) microcephaly
(7) hypogonadism
(8) esophageal stenosis
(9) urethral stenosis
(10) bone changes (early osteoporosis, avasuclar necrosis)
(11) hepatic fibrosis
(12) abnormal skin pigmentation not limited to neck and upper chest
Complications which may prove fatal:
(1) aplastic anemia
(2) myelodysplasia and/or acute myeloid leukemia
(3) solid carcinoma
(4) pulmonary fibrosis
6 genetic subtypes have been identified but additional mutations have not yet been characterized.
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Gene Product
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Chromosome
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Inheritance
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DKC1 (dyskerin)
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Xq28
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X-linked recessive
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NHP2 (NOLA2)
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5q35
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autosomal recessive
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NOP10 (NOLA3)
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15q14
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autosomal recessive
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TERC
|
3q26
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autosomal dominant
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TERT
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5p15
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autosomal dominant, autosomal recessive
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TINF2
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14q11
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autosomal dominant
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