肥厚性皮膚骨膜症

Cutis verticis gyrata (CVG) is an uncommon disorder characterized by cerebriform thickening of the scalp that may occur as a primary condition or secondary to a variety of systemic disorders. We report two patients with clinically distinct presentations of CVG illustrating the diagnostic challenges encountered during classification. A 40-year-old man presented with progressive scalp thickening and visual impairment, raising suspicion for primary non-essential or secondary CVG; however, definitive classification was not possible because further ophthalmological and systemic investigations could not be completed after he was lost to follow-up. A 28-year-old man presented with asymptomatic scalp folds accompanied by seborrhea and comedonal acne, initially suggesting pachydermoperiostosis. However, normal laboratory and endocrine investigations, including normal serum growth hormone levels, together with the absence of digital clubbing, periostosis, and radiographic abnormalities, favored primary essential CVG. These cases emphasize that CVG should be regarded as a clinical sign requiring systematic neurological, ophthalmological, endocrine, skeletal, and dermatological evaluation before definitive classification.

Primary hypertrophic osteoarthropathy (PHO) is a rare genetic disorder that closely mimics inflammatory arthritis, leading to diagnostic delays and inappropriate treatment. We report the case of an adolescent boy who presented with a 2-year history of intermittent joint pain and swelling and was initially diagnosed with juvenile idiopathic arthritis at a primary care centre. He was treated with sulfasalazine but experienced only partial symptomatic relief. Laboratory evaluation at the referring centre showed a negative rheumatoid factor and mildly elevated C-reactive protein. Persistent symptoms prompted re-evaluation, which revealed clinical features and a positive family history consistent with PHO. Recognition of characteristic clinical findings and family history led to the correct diagnosis, allowing discontinuation of the disease-modifying anti-rheumatic therapy. This case highlights the importance of considering PHO in the differential diagnosis of chronic arthritis in children, particularly in those with a positive family history.

Primary hypertrophic osteoarthropathy (PHO), also known as pachydermoperiostosis, is a rare genetic disorder with autosomal inheritance. We present the case of a 31-year-old male with a disease onset at 12 years of age, initially presenting as digital clubbing of the hands and feet and ankle joint hypertrophy. The clinical phenotype progressed significantly by age 17, with the development of marked facial skin thickening, deepened centripetal skin folds, a corrugated scalp, hypertrophic alae nasi, acne, ptosis, and palmoplantar hyperhidrosis. Anemia was identified at age 19, accompanied by persistent fatigue, followed by the onset of bilateral knee joint pain two years later. Fluorine-18-fluorodeoxyglucose (18F-FDG) positron emission tomography/computed tomography (PET/CT) imaging revealed a constellation of findings that can be grouped into three categories: (1) skeletal: cortical thickening and periosteal reaction in the long bones of the lower limbs, along with extensively increased bone marrow density throughout the skeleton; (2) soft tissue: diffuse thickening of the cranial and facial skin, and multiple para-spinal soft tissue foci; and (3) systemic: cardiac findings suggestive of anemia-related adaptation. Genetic analysis confirmed the diagnosis by identifying heterozygous mutations in the SLCO2A1 gene (c.290G>A [p.R97H] and c.1295+1G>A), establishing PHO complicated by anemia.

Pachydermoperiostosis (Touraine-Solente-Gole syndrome) is a rare disorder that can mimic acromegaly and should be considered a differential in patients with acromegaloid features. A 21-year-old man with acral enlargement, coarse facial features, joint pain, and hyperhidrosis, initially evaluated for acromegaly but eventually diagnosed as familial complete pachydermoperiostosis. 99m Tc-methylene diphosphonate skeletal scintigraphy showed increased perfusion, soft tissue and pericortical linear tracer uptake in the distal one third of tibiae, fibulae, and around the knee joint with periosteal thickening. The typical linear pattern of symmetrical tracer uptake at the end of long bones differentiates pachydermoperiostosis from secondary hypertrophic osteoarthropathy, which often shows asymmetric involvement.