Acta Dermato-Venereologica 98-9CompleteContent | Page 24

SHORT COMMUNICATION Premature Aging Syndrome, Penttinen Type: Report of a Chinese Case with a PDGFRB Mutation Zhiyong ZHANG 1 , Shuguang ZHENG 2 , Song ZHENG 3 , Yanyan WANG 4 , Xue-Gang XU 3 *, Xing-Hua GAO 3 and Hong-Duo CHEN 3 Department of Nuclear Medicine and 4 Department of Ophthalmology, Affiliated Hospital of Inner Mongolia Medical University, Hohhot, Department of Radiology, the People’s Hospital of Liaoning Province, and 3 Department of Dermatology, No.1 Hospital of China Medical University, 155 North Nanjing Street, Shenyang 110001, China. *E-mail: [email protected]. 1 2 Accepted Jun 14, 2018; Epub ahead of print Jun 25, 2018 Premature aging syndrome, Penttinen type (Penttinen syndrome, OMIM: 601812), is a rare progeroid syn- drome characterized by a prematurely aged appearance, acro-osteolysis, loss of subcutaneous fat, translucent skin with keloid-like lesions, and other symptoms (1–3). We enrolled one Chinese patient with the characteristic presentations of Penttinen syndrome and identified a PDGFRB mutation in this patient. CASE REPORT The patient was an 18-year-old male who was born with a ge- nerally normal appearance. At 2 years, he was noted to have frequent micturition and an open anterior fontanel. A cranial CT scan indicated hydrocephalus. At about 4 or 5 years, he presented with a large anterior fontanel and flat occiput, broad thumbs and halluces, developmental delay, and limited range of motion of the fingers. Gradually, his skin became very thin, dry, and translucent with diffuse hyperpigmentation and scattered keloid-like nodular lesions after wounds and on the pressures sites. At 18 years, he was referred to our department owing to his specific facial features. He was 192 cm tall and weighed 87.5 kg. He had marked maxillary retraction, pseudoprognathism, proptosis, ectropion, an open anterior fontanel, and a flat occiput (Fig. 1a, b). The eruption of 912 his permanent teeth was delayed, and some deciduous teeth were still present. Dermatologic examination showed thin, dry, pruritic skin, diffuse hyperpigmentation, and loss of subcutaneous fat. His skin was particularly translucent, with a prominent venous pat- tern (Fig. 1c). Other findings included keloid-like nodules on the elbows, knees, and other pressure points; cicatricial contractures on the palms; and several hypopigmented lesions on the trunk (Fig. 1d–f). A biopsy of the skin on his leg showed increased melanin in the basal layer of the epidermis, homogeneous collagen, and a reduced number of sweat glands and other appendages (Fig. 1h). Skeletal examination showed severe contractures and shortening of his fingers (Fig. 1d). He also presented with stiffness of his hands, fingers, and large articulations as well as kyphoscoliosis (Fig. 1g). X-rays confirmed these findings and showed flexion deformities of the interphalangeal joints, and acro-osteolysis of the distal phalanges, and scoliosis (Fig. S1a, b 1 ). Cranial CT and MRI scan showed thin calvarium; open anterior fontanel, posterior fontanel and sagittal suture; hydrocephalus; and temporalis hypertrophy (Fig. S1c, d 1 ). Numerous arachnoid cysts and mega cisterna magna were also noted in addition to cerebellar atrophy and leukoence­ phalopathy of the bilateral periventricular white matter and centrum semiovale, which did not match to his age (Fig. S1e 1 ). Echocar- diography showed left ventricular diastolic dysfunction (E/A<1). His intelligence and other examinations were found to be normal. https://www.medicaljournals.se/acta/content/abstract/10.2340/00015555-2993 1 Fig. 1. (a, b) The patient had a distinctive appearance of premature aging: maxillary retraction, pseudoprognathism, proptosis, ectropion, and flat occiput. (c) Thin and translucent skin with loss of subcutaneous fat. (d) Severe contractures and shortening of the fingers. Scar-like lesions on the palm. (e) Keloid-like lesions on the elbow. (f) Diffuse hyperpigmentation and nodules on the lower extremities. (g) Kyphoscoliosis. (h) Histological presentations of a skin biopsy from his leg showed increased melanin in the basal layer of the epidermis, a relatively thin dermis and little subcutaneous fat, a deposit of homogeneous material in the dermis and a reduced number of sweat glands and other appendages (hematoxylin and eosin, ×100). Written permission is given by the patient to publish these photos. doi: 10.2340/00015555-2993 Acta Derm Venereol 2018; 98: 912–913 This is an open access article under the CC BY-NC license. www.medicaljournals.se/acta Journal Compilation © 2018 Acta Dermato-Venereologica.