Dyskeratosis congenita with esophageal and anal stricture

ABSTRACT

A 20-year-old man presented with skin lesions on his forearms and legs that had started to appear at 3 years of age. On exposure to the sun, his skin became red. He suffered from dysphagia and dysdefecation. His parents' marriage was not consanguineous, and they were well. His five brothers and sister were also well. He stated that one of his aunt's sons and his uncle's son had the same lesions, but we were unable to examine them.

Physical examination revealed a reticulated pattern of atrophy, pigmentation, erythema, and telangiectasia on the neck (Fig. 1), shoulders, popliteal fossa, and limbs. Atrophic lesions were also present on the extensor aspects of the elbow and knees, and on the dorsum of the proximal and distal interphalangeal joints of both hands (Fig. 2). Oral mucosal examination showed leukokeratosis on the dorsum and sides of the tongue. There was mild hyperkeratosis on the dorsum of the feet and hands. Sclerodactyly of the hands and feet was also present. The patient had no fingerprints. The nails were thickened and rough, and had longitudinal and transverse ridges. Hairs on the legs, forearms, and trunk were sparse. There was no splenomegaly or genital abnormalities.

 

Figure 1 Patient's neck showing reticulated, hyperpigmented, and atrophic skin lesions and telangiectasias [Normal View ]

 

Figure 2 Thin and atrophic skin of the dorsum of the hands and dystrophic fingernails [Normal View ]

Laboratory tests were as follows (normal values in parentheses): white blood count, 10,000/mm³ (4000–10,000/mm³), with 66% neutrophils and 34% lymphocytes; red blood cell count, 5.68 × 10⁶/µL; hemoglobin, 10.6 mg/dL; hematocrit, 35.4%; mean corpuscular volume, 62.2 fL; platelet count, 419 × 10³/µL; erythrocyte sedimentation rate, 4 mm/h (0–13 mm/h); vitamin B₁₂, 285 pg/mL (211–911 pg/mL); folic acid, 6.4 ng/mL (1.1–20 ng/mL); ferritin, 3.7 ng/mL (22–322 ng/mL). There was mild anisocytosis, microcytosis, and hypochromic anemia in a peripheral blood smear. Liver transaminase levels were normal. There was a mild monoclonal gammopathy, with a serum immunoglobulin G (IgG) of 1630 mg/dL (normal, 751–1560 mg/dL) and a C3 of 155 mg/dL (normal, 79.2–152 mg/dL). The IgM and IgA levels were normal.

Chest X-ray was normal, and there was no evidence of abnormal calcification on skull X-ray.

An upper gastrointestinal endoscopy demonstrated a stricture at the upper esophageal sphincter. Esophagography clearly revealed an esophageal stricture at the proximal esophagus (Fig. 3). Sigmoidoscopy could not be performed because of the significant anal stricture, nor could a digital rectal examination.

 

Figure 3 Esophagographic image demonstrating an esophageal stricture at the proximal esophagus [Normal View ]

Histopathology of a biopsy specimen from the skin of the shoulder showed flattening of the epidermis, a mild infiltrate of chronic inflammatory cells and melanophages, and dilated capillaries in the dermis.