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Terminal osseous dysplasia with pigmentary defects
Other Resources UpToDate PubMed

Terminal osseous dysplasia with pigmentary defects

Contributors: Regina Parker, Nathanael Jensen BS, Jason Mathis MD, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

Terminal osseous dysplasia with pigmentary defects (TODPD) is a rare, X-linked dominant disorder that is lethal to males in utero. Dermatologists have proposed the term "digitocutaneous dysplasia" in lieu of TODPD, as there is an apparent lack of genuine pigment defects in TODPD. Around 30 cases of the disease in more than a dozen families have been reported to date.

TODPD demonstrates wide phenotypic variability. Clinical features include atrophic pigmented plaques on the face and scalp, skeletal abnormalities of the limbs, and digital fibromatosis in infancy and childhood. Other less common findings include joint contractures, dysmorphic facial features, colobomas of the iris, more than one oral frenulum, and urogenital and cardiac abnormalities.

Digital fibromas are the most prominent and common feature of TODPD and are observed between birth (see infantile digital fibromatosis) and age 5. These fibromas are often recurrent after surgical excision, but they tend to resolve with age, and so are an infrequent finding in adults. Another cutaneous finding is the presence of hyperpigmented, atrophic papules and plaques that are often found on the face, particularly the temporal regions, malar regions, and scalp. There may be associated alopecia. Skin lesions in TODPD may not appear until late childhood or early adulthood.

Skeletal findings in TODPD include abnormal ossification of the bones of the hands and feet, brachydactyly, and clinodactyly. Metacarpal bones may be shortened and irregularly shaped with fusion at the base or with the carpal bones. Bowing and mesomelic shortening of the long bones may also be seen.

TODPD is caused by a mutation in exon 31 of the FLNA gene that encodes the filamin A protein, a cytoplasmic protein that links actin filaments to membrane glycoproteins and participates in modeling of the cytoskeleton. Given the wide phenotypic variation of the disease, it is thought that mutations implicated in TODPD involve X-inactivation. TODPD is the only FLNA-related disorder that has been reported with skin findings.

For more information, see OMIM.

Codes

ICD10CM:
Q87.2 – Congenital malformation syndromes predominantly involving limbs

SNOMEDCT:
723578001 – Terminal osseous dysplasia and pigmentary defect syndrome

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

Digital fibromatosis:
Facial and scalp plaques:
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References

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Last Reviewed:07/06/2020
Last Updated:07/26/2020
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Terminal osseous dysplasia with pigmentary defects
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Terminal osseous dysplasia with pigmentary defects
Copyright © 2021 VisualDx®. All rights reserved.