Subcutaneous Calcification and Fixed Flexion Deformity of the Right Elbow Joint in a Child with a GNAS Mutation, the First Case Report

Introduction: The art of medicine glorifies when a clinician listens carefully to the patient’s story, gives a thorough examination, performs appropriate investigations, and finally links findings together to reach a definite diagnosis. An interesting case was reported here, highlighting the integration of different symptoms and manifestations with some relevant biochemical investigations to reach a final diagnosis. To the best of our knowledge, fixed flexion deformity, as a complication of subcutaneous calcification, has not been previously reported in a child with Albright hereditary osteodystrophy (AHO). Case Presentation: A 2.5-year-old boy was born at term with a birth weight of 3.5 kg (-0.49 SDS). The child was referred to a general pediatrician with a history of right elbow joint swelling noticed initially at six months of age. He then developed the limitation of right upper arm movement, which slowly progressed afterward. The patient had no history of trauma. At nine months of age, he was diagnosed with hypothyroidism, preceded by cold skin, dry hair, and constipation. At nine years of age, he presented with a fixed flexion deformity of the right elbow, associated with markedly limited joint movement and symmetrical hands with hyperpigmented knuckles of right metacarpal bones. Subcutaneous masses were felt along the right forearm, showing tenderness on palpation. Investigations revealed elevated serum parathyroid hormone and normal calcium, indicating parathyroid hormone resistance. Further genetic testing revealed GNAS mutation. The child was obese throughout his childhood. Conclusions: This case report describes an obese child with subcutaneous calcification that led to fixed flexion deformity of the elbow, starting at an incredibly early age. Hypothyroidism and pseudohypoparathyroidism raised the suspicion of AHO, which was later confirmed by genetic testing. This is the first case report on fixed flexion deformity in a patient with GNAS mutation (c.719-1G > A Chr20: 57484737) in West Asia.

Subcutaneous calcification as a supportive radiologic finding for diagnosis of rhinofacial entomophthoromycosis

Rhinofacial entomophthoromycosis is an uncommon chronic fungal infection of the head and neck. The diagnosis is usually based on clinical manifestations; however, diagnosis of this infection based on early manifestations is difficult and occasionally rhinofacial entomophthoromycosis is mistaken for other diseases. Therefore, computed tomography is introduced to support the diagnosis. Radiologic findings were nonspecific with swelling of the sinonasal mucosa and perinasal region. However, subcutaneous calcification, that was observed in all our cases, may be a supportive radiologic evidence for diagnosis. The diagnosis should be confirmed definitively using histopathology or fungal culture. Early diagnosis allows prompt and appropriate treatment that will achieve excellent outcomes. We suggest that subcutaneous calcification radiologic finding may guide the aware physician to an early diagnosis of rhinofacial entomophthoromycosis.

Chronic Venous Insufficiency and Dystrophic Subcutaneous Calcification

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