Clinical Presentation of a Patient with Congenital Cutis Laxa and Abnormal Thyroid Hormone Levels
A 7-year-old female patient was admitted to our hospital due to developmental delay, growth retardation, and loose facial skin since birth. At 2 months of age, she was found to have a hoarse voice. At the age of 3 years, her height was significantly lower than that of children of the same age. However, she had no other symptoms, had normal intelligence, and was able to perform normal activities. She underwent surgery to repair an inguinal hernia at the age of 3 years. Her father had a similar skin disease, but his height was normal with about 5.6 feet (1.7 m). Physical examination revealed that the patient's height was 100 cm, weight 16 kg, and she had loose inelastic skin hanging in folds. Her face appeared like that of an elderly woman (fig. ). Loose and sagging skin folded over the neck, arm, and trunk, which gave her a prematurely senile appearance with her skin displaying obvious relaxation and elasticity (fig. ). The thyroid was not enlarged. Her father also had skin hanging in folds over his abdomen (fig. ). Further examination after admission revealed a normal electrocardiogram and chest X-ray. Radiological investigation of the hand wrist bone showed a markedly delayed bone age. Laboratory values revealed normal values for complete blood count, erythrocyte sedimentation rate, routine urine analysis, blood biochemistry, hepatic enzymes, and serum electrophoresis. Serologic tests for syphilis (RPR, TPPA) were negative. Skin biopsy specimens taken from the involved area were stained with hematoxylin-eosin and Weigert stains. Histological findings from the skin biopsy revealed a dermal collagen fiber glass-like swelling and perivascular lymphocyte infiltration. Elastic fiber staining showed that the elastic fibers present were fragmented, arranged in disorder, and had a granular appearance (fig. ). By contrast, the collagen structure, content, and distribution were normal (fig. ). Because of the growth delay, the thyroid functions were tested and revealed FT3 7.71 mmol/l (normal range: 3.8–6.0), FT4 24.80 mmol/l (normal range: 7.9–14.4), TSH 2.29 mIU/l (normal range: 0.34–5.0 mIU/l), thyroid microsomal antibody 4.16% (normal range: <15), and thyroglobulin antibody 9.23% (normal range: <30). Growth hormones and adrenocorticotropic hormones were all within normal ranges, as were skull radiographs. Based on these clinical manifestations and laboratory examinations, the most likely diagnosis in our patient was CL syndrome with abnormal thyroid hormone levels.