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Rothmund-Thomson Syndrome Differential Diagnoses

  • Author: Sylvia Hsu, MD; Chief Editor: Dirk M Elston, MD  more...
Updated: Mar 30, 2016

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.[16]

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

Contributor Information and Disclosures

Sylvia Hsu, MD Professor, Department of Dermatology, Baylor College of Medicine

Disclosure: Nothing to disclose.


Saira J George, MD Assistant Professor of Dermatology, The University of Texas MD Anderson Cancer Center

Saira J George, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology

Disclosure: Nothing to disclose.

Specialty Editor Board

Michael J Wells, MD, FAAD Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine

Michael J Wells, MD, FAAD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Texas Medical Association

Disclosure: Nothing to disclose.

Van Perry, MD Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas School of Medicine at San Antonio

Van Perry, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Andrea Leigh Zaenglein, MD Professor of Dermatology and Pediatrics, Department of Dermatology, Hershey Medical Center, Pennsylvania State University College of Medicine

Andrea Leigh Zaenglein, MD is a member of the following medical societies: American Academy of Dermatology, Society for Pediatric Dermatology

Disclosure: Received consulting fee from Galderma for consulting; Received consulting fee from Valeant for consulting; Received consulting fee from Promius for consulting; Received consulting fee from Anacor for consulting; Received grant/research funds from Stiefel for investigator; Received grant/research funds from Astellas for investigator; Received grant/research funds from Ranbaxy for other; Received consulting fee from Ranbaxy for consulting.

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Note the poikiloderma and skeletal abnormalities.
Close-up of poikiloderma.
Close-up of poikiloderma.
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