RETICULATE PIGMENTARY DERMATOSIS ASSOCIATED WITH HYPOHYDROSIS AND SHORT STATURE - A VARIANT OF NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME

A 4-year-old Japanese boy presented with pigmented, dry skin, covering nearly the whole body, without any preceding inflammatory changes. Th e lesions were noted at the age of 2 or 3 years by his mother. His fat her had a similar pigmentation when he was a child. The boy's heterozy gous twin-sister did not. Physical examination revealed brown, reticul ate, pigmented macules on the body, except for the face and the palmop lantar surface. On the anterior aspect of the neck, from the arm pits to the upper arms and from the lower abdomen to the thighs, brown-colo red, hyperpigmented macules were intermingled with fine flesh-colored spots (Fig. 1a). Brown-black macules were present on the gingiva and b uccal membrane (Pig. 1b). Periungual areas of fingers and toes were al so pigmented (Fig. 1c). No deformity of the nails or teeth was found. The patient's weight and height were 10.6 kg and 97 cm, respectively, which were 3.2 and 1.85 standard deviations below average values for J apanese children of corresponding age. Light microscopic examination o f biopsy specimens from the thigh revealed slight hypermelanosis of th e basal layer, an increased number of melanophages in the papillary de rmis, and some eosinophilic degenerating cells in the epidermis (Fig. 2). Complete blood cell counts and routine laboratory chemistry values were within normal limits, Among endocrinologic tests, thyroid-stimul ating hormone (TSH) showed a high value of 17.1 mu U/mL (normal 0.4-3. 3), although T-3 and T-4 values were within the normal range. The rele ase of TSH, adrenocorticotropic hormone (ACTH), growth hormone (GH), p rolactin, luteinizing hormone (LH), or follicle-stimulating hormone (F SH) after appropriate stimuli was not impaired. The bone age of the ha nd was 3 years. Chromosome analysis showed a normal karyotype. The swe at test, using the method of Sato, revealed a positive reaction only i n the axilla, finger and toe tips, buttocks, and part of the back. Wit h the diagnosis of subclinical hypothyroidism, thyroxine was started i n the patient. The level of TSH decreased to the normal range, althoug h his growth retardation continued. During the following 5 years, the patient's pigmentation faded slightly.