Table 2.

Genes and Disorders to Consider in the Differential Diagnosis of Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis

Gene(s)DisorderMOIOverlapping FeaturesAdditional Distinguishing Features
ANAPC1
RECQL4 		Rothmund Thomson syndrome (RTS)AREarly-onset poikiloderma, hypotrichosis, palmoplantar keratodermaRTS is assoc w/skeletal & dental abnormalities.
FERMT1 Kindler syndrome ARDiffuse poikiloderma w/striate & reticulate atrophy; widespread eczema-like dermatitis; keratotic papules of hands, feet, elbows, & knees; marked photosensitivityKindler syndrome is assoc w/skin fragility w/bullae on extremities at birth & after minor trauma, webbing of fingers & toes, & esophageal & urethral strictures.
USB1 Poikiloderma with neutropenia (PN)AREarly-onset poikiloderma & hematologic featuresPN is assoc w/distal-proximal limb & central body rash, hyperkeratotic nails, & recurrent infections. PN is not assoc w/photo- or heat sensitivity.

From: Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.