Rothmund-Thomson Syndrome Differential Diagnoses

Updated: Jun 18, 2018
  • Author: Sylvia Hsu, MD; Chief Editor: Dirk M Elston, MD  more...
  • Print

Diagnostic Considerations

Acrogeria (Gottron syndrome), an autosomal recessive disease, is characterized by acral poikiloderma in infancy and lipoatrophy.

Bloom syndrome, an autosomal recessive disease, is characterized by telangiectases and light sensitivity with erythema on the face and other sun-exposed areas. Patients with Bloom syndrome do not have a true poikiloderma.

Patients with Cockayne syndrome develop a photodistributed erythema, atrophy, and hyperpigmentation.

Patients with dyskeratosis congenita develop reticulated hyperpigmentation or hypopigmentation on the face, the neck, the trunk, and the thighs.

Erythropoietic protoporphyria causes erythematous, edematous, photodistributed plaques after exposure to ultraviolet light.

Fanconi anemia, an autosomal recessive disease, is characterized by generalized, dusky, olive-brown pigmentation that is most intense on the lower part of the trunk, in the flexures, and on the neck in 85% of patients; pancytopenia; and skeletal malformations, including aplasia or hypoplasia of the thumb, metacarpal, or radius, in 60% of patients.

Kindler syndrome, an autosomal recessive disorder, is characterized by acral bullae at birth and after minor trauma, acral hyperkeratosis, mucous membrane fragility with esophageal and urethral strictures, and webbing of the fingers and the toes. Acrokeratotic poikiloderma of Weary, which probably is an autosomal dominant form of Kindler syndrome, is characterized by a widespread eczematous dermatitis and acral bullae in infancy, with the later development of acral keratoses. [22]

Poikiloderma with neutropenia is an autosomal recessive disorder characterized by generalized poikiloderma, short stature, nail dystrophy, and neutropenia.

Lupus erythematosus may present with a characteristic butterfly facial erythema.

Mendes da Costa syndrome, an X-linked recessive disease, is characterized by alopecia and generalized bullae in infants; poikiloderma develops later.

Patients with progerioid Werner syndrome develop sclerodermoid changes on acral areas, with mottled hyperpigmentation, telangiectasias, and premature canities.

Differential Diagnoses