Dyskeratosis congenita physical examination

The triad of reticulated hyperpigmentation of the skin, nail dystrophy, and leukoplakia characterizes DKC. The syndrome is clinically heterogeneous; in addition to the diagnostic mucocutaneous features and bone marrow failure, affected individuals can have a variety of other clinical features.

• Abnormal skin pigmentation – tan to gray hyperpigmented or hypopigmented macules and patches in a mottled or reticulated pattern. Reticulated pigmentation occurs in approximately 90% of patients.
• Poikilodermatous changes with atrophy and telangiectasia are common.
• Alopecia of the scalp, eyebrows, and eyelashes
• Premature graying of the hair
• Hyperhidrosis
• Hyperkeratosis of the palms and soles
• Adermatoglyphia (loss of dermal ridges on fingers and toes)

The cutaneous presentation may clinically and histologically resemble graft versus host disease. The typical distribution involves the sun-exposed areas, including the upper trunk, neck, and face.

• Excessive tearing
• Red eyes

• Mucosal leukoplakia – occurs in approximately 80% of patients and typically involves the buccal mucosa, tongue, and oropharynx. Patients also may have an increased prevalence and severity of periodontal disease.

• Rales are heard in those having pulmonary fibrosis.

• Esophageal webs
• Hepatosplenomegaly

• Nail dystrophy (ridging and longitudinal splitting) – seen in approximately 90% of patients, with fingernail involvement often preceding toenail involvement.
• Absent nails – in advanced disease.

• Low IQ
• Patients may have learning difficulties and mental retardation.

• Hypospastic testes (small testis),
• Hypospadias
• Ureteral stenosis

Female carries of DKC may have subtle clinical features. One study showed that 3 of 20 female carriers had clinical features that included a single dystrophic nail, a patch of hypopigmentation, or mild leukoplakia.

Other mucosal sites may be involved (e.g., esophagus, urethral meatus, glans penis, lacrimal duct, conjunctiva, vagina, anus).

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