Late-onset Rothmund-Thomson syndrome

A 43-year-old woman presented with complaints of exfoliation of the skin and mottled pigmentation all over the body, intolerance to sunlight for the last 14 years, and swelling on the lower one-third of the neck for 15 years. She was apparently well until the age of 29 years when she noticed redness on her shins which later progressed to involve the upper limbs, chest, and face. Three months later, she observed multiple, small, brownish plaques over the erythematous areas, which gradually spread to the sun-exposed areas, namely the face, forearms, hands, and nape of the neck. The erythema disappeared within 5 months of onset. The patient experienced redness of the face, intolerance to the sun, and reduced sweating, particularly during the summer. There was no history of bullous eruption, difficulty during deglutition, tremors, or pedal edema. She suffered five miscarriages and, ultimately, was successful in delivering a normal boy who is now 16 years of age. She had menarche at the age of 14 years and her menstrual cycle was regular. There was no history of similar illness in the family. On cutaneous examination, the skin on the face, neck, trunk, buttocks, and limbs was found to be dry, lusterless, thin, and covered with fine scales. Mottled hyperpigmentation was observed all over the body. Atrophy and telangiectasia were seen over the neck (Fig. 1), face (Fig. 2), nape of the neck, upper and lower limbs, back, and chest. Mild erythema was observed over the face, nose, ears, and forearms. The hair on the scalp, eyebrows, axillae, and pubic area was sparse and thin. The teeth were loose and discolored due to caries, and a foul odor emanated from the mouth. The nails were lusterless and centrally depressed. The thyroid gland was enlarged, smooth, nontender, and moved with deglutition. No bruit was heard over it. No ocular abnormality was detected. The patient had a haemoglobin level of 7.6 g%, total serum iron binding capacity of 70 micromol/L (normal, 45-66 micromol/L), and serum ferritin level of 10 microg/L (normal, 15-200 microg/L). Peripheral blood smear showed hypochromic microcytic red blood cells. Total and differential leukocyte counts, erythrocyte sedimentation rate (ESR), blood glucose, serum electrolytes, total and differential serum proteins, liver function tests, blood urea, and microscopic examination of urine and stools were within normal limits. The thyroid profile and complement C3 and C4 levels were within normal limits. Rheumatoid factor, antinuclear factor and LE cells were absent. Abdominal ultrasonogram was normal. Fine needle aspiration cytology from the thyroid gland showed features suggestive of colloid goiter. Skin biopsy revealed thinning of the epidermis, flattening of the rete ridges, and hydropic degeneration of the basal cell layer. The dermis was edematous with dilated capillaries, melanophages, and a band-like mononuclear infiltrate. The sweat glands were reduced in number.