PMC5217937_01
(a) Anterior and lateral views of the patient show a generalized absence of subcutaneous fat with a protuberant abdomen, small mandible, small mouth and beaked nose. (b) Close up view of the face and axillary regions. Note the presence of facial lipoatrophy, a lack of hair and the existence of acanthosis nigricans. (c) Multiple calluses are observed in the soles of her feet. (d) A cross-sectional computed tomography scan at the navel level and thighs. Note the lack of subcutaneous fat and an excessive amount of visceral fat accumulation. (e) T1 weighted magnetic resonance imaging of the sagittal section of the head and upper thorax. Note the presence of subcutaneous adipose tissue in the dorsal cervical region with mandibular hypoplasia. (f) Growth chart. (g) Alopecia areata.
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A 33-year-old Japanese woman presented with 'sporadic' congenital partial lipodystrophy (CPLD) associated with mandibuloacral dysplasia (MAD) and an unusual fat maldistribution (Figure 1a-d). She had many unique features, such as growth retardation without cognitive dysfunction, bilateral sensorineural deafness and alopecia (Figure 1f,g), which coexisted with various progeroid features distinct from those previously described in classical CPLD and/or MAD-A/B types1, 2, 3, thus suggesting a novel subtype of CPLD or a new causative syndrome. Her parents first noted fat loss in her limbs during infancy, and she subsequently developed poor overall growth (Figure 1f). When the patient was 33 years-of-age, further investigations were carried out (body mass index 15.1 kg/m2) and progressively abnormal adipose tissue topography with a paucity of subcutaneous fat in her entire body including the palms of her hands and soles of her feet was noted (Figure 1a-c). Abdominal computed tomography and whole body magnetic resonance images confirmed visceral fat accumulation (visceral fat area/subcutaneous fat area = 217.1/13.3 cm2 at the navel level) with mandibular hypoplasia without clavicular hypoplasia (Figure 1d,e). She showed hirsutism, acanthosis nigricans, alopecia areata (Figure 1b,g) and dysmenorrhea (due to polycystic ovary syndrome based on the low sex hormone-binding globulin, normal free testosterone, elevated luteinizing hormone/follicle-stimulating hormone ratio and a polycystic pattern on magnetic resonance imaging [T1, T2WI/fat suppression imaging]).