The Role of Genetic Mutations in the HPGD & SLCO2A1 Genes in Pachydermoperiostosis Syndrome
Published on: 1st May, 2025
Pachydermoperiostosis, also known as Primary Hypertrophic Osteoarthropathy (PHO), is a rare genetic disorder. The three main features are: enlarged fingertips (clubbing), thickened facial skin (pachydermia), and excessive sweating (hyperhidrosis). PHO is characterized by problems with skin and bone growth. Patients with PHO usually have coarse facial features with oily, thick, grooved skin on the face, joint pain, enlarged fingertips and toes, and hyperhidrosis of the hands and feet. Symptoms vary individually; however, men generally present with more severe manifestations. X-rays can help check for features that are not noticeable to the naked eye. There are two genes that are associated with PHO: the HPGD gene, located on the long arm of chromosome 4 at 4q34.1, and the SLCO2A1 gene, located on the long arm of chromosome 3 at 3q22.1 - q22.2. Mutations in the HPGD gene are inherited in an autosomal recessive manner, and the condition is sometimes abbreviated as PHOAR1 or Touraine-Solente-Gole syndrome.
Squamous Cell Carcinoma of the External Auditory Canal in Previously Treated Case of Adenoid Cystic Carcinoma of Parotid Gland
Published on: 1st May, 2025
Malignant neoplasms of the external auditory canal, middle and inner ear are rare. This anatomically complex region generates complicated three-dimensional specimens that can be a challenge for macroscopic and microscopic assessment [1]. The most common cause of malignancy involving the EAC and temporal bone is extension of cutaneous malignancy of pinna. Rare occurrences have been described in association with CSOM and sporadic cases arising in previously irradiated fields for the treatment of other head and neck cancers. The tissue diagnosis is relatively straightforward; however staging is a complex task that is best approached with consideration of clinical, radiological, and pathological findings [2].
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