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.

AR = autosomal recessive; MOI = mode of inheritance

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

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