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Benign tumors
Published in Archana Singal, Shekhar Neema, Piyush Kumar, Nail Disorders, 2019
Angiolymphoid hyperplasia with eosinophilia presents with bright-red or violaceous nodules, quite often in the head and neck region. Distal digital localization is rare. Nail bed involvement leads to a reddish or bluish-red discoloration or to nail splitting and nail deformity.184 One case was described in association with pachydermoperiostosis.185 A circumscribed proliferation of blood vessels and a chronic inflammatory infiltrate rich in eosinophils characterize this reactive benign lesion. Synonyms were epithelioid angioma, inflammatory angiomatous nodule, pseudo-pyogenic granuloma, atypical pyogenic granuloma, and intravenous atypical vascular proliferation.186–188 Trauma and inflammation are thought to play an etiological role.
Musculoskeletal (including trauma and soft tissues)
Published in Dave Maudgil, Anthony Watkinson, The Essential Guide to the New FRCR Part 2A and Radiology Boards, 2017
Dave Maudgil, Anthony Watkinson
The following are causes of secondary hypertrophic pulmonary osteoarthropathy. True or false? Hodgkin’s disease.Biliary atresia.Pachydermoperiostosis.Nasopharyngeal polyposis.Infected aortic grafts.
Vascular tumors
Published in Eckart Haneke, Histopathology of the NailOnychopathology, 2017
Angiolymphoid hyperplasia with eosinophilia is a benign reactive skin lesion characterized by a circumscribed proliferation of blood vessels and a chronic inflammatory infiltrate rich in eosinophils. Synonyms were epithelioid angioma, inflammatory angiomatous nodule, pseudo-pyogenic granuloma, atypical pyogenic granuloma, and intravenous atypical vascular proliferation.64–66 Trauma and inflammation are thought to play an etiological role. Clinically, bright red or violaceous nodules are seen, quite often in the head and neck region. Distal digital localization is rare. Nail bed involvement leads to a reddish or bluish-red discoloration or to nail splitting and nail deformity.67 One case was described in association with pachydermoperiostosis.68
Touraine–Solente–Gole syndrome
Published in Orbit, 2018
Pachydermoperiostosis (PDP) was first described by Friedreich in 1868, who called it “Hyperostosis of the entire skeleton”.1 In 1907, Unna named the term “cutis verticis gyrate” for thick, transversely folded skin of scalp and forehead.2 In 1935, three dermatologists, Touraine et al., recognized this condition as a familial disorder with three forms: complete (periostosis and pachydermia), incomplete (without pachydermia) and the forme fruste (pachydermia with minimal skeletal changes).3 As per Borochowitz, the diagnosis should only be made when at least two out of a family history, clubbing, hypertrophic skin changes and bone pain/radiographic changes are present.4 The exact incidence is not known but estimated prevalence of the disease is 0.16%.5 Symptoms usually appear around puberty, with a male to female ratio of 7:1 and males are severely affected. In a review of 68 published families with PDP, including 204 patients, Castori et al. found that 37 families showed autosomal dominant inheritance and autosomal recessive inheritance was suggested in the remaining families.6 The main features of PDP are digital clubbing, skin changes like seborrhea, hyperhidrosis and hypertrophy causing coarse facial features along with bone and joint involvement causing arthritis, periosteal new bone formation, periosteal reaction and acroosteolysis. Gastric hypertrophy, gastric ulcer and other endocrine abnormalities have been described. Ptosis is a less commonly encountered association. We are reporting a case of complete PDP with blepharoptosis as a presenting complaint.
Primary hypertrophic osteoarthropathy with severe arthralgia identified by gene mutation of SLCO2A1
Published in Modern Rheumatology Case Reports, 2021
Tatsuo Ishizuka, Kei Fujioka, Ichiro Mori, Tomofumi Takeda, Masayuki Fuwa, Takahide Ikeda, Koichiro Taguchi, Hiroyuki Morita, Kazuhiko Nakabayashi, Hironori Niizeki
A 37 year-old male had a severe arthralgia and visited to a nearby doctor at 38 year-old. However, arthralgia was not improved after treatment with NSAID. He was introduced to Gifu Municipal Hospital as suspected rheumatoid arthritis at 41 year-old. Past history showed ileus at 12 year-old and gastric ulcer receiving partial gastrectomy at 13 year-old. Facial feature showed pachydermia including cutis vertices gyrate and finger clubbing was observed at 29 year-old in Gifu University Hospital (Fig 1). The 28 tender joints counts at PIP, MP, elbow, shoulder, knee joints and no swollen joint count were observed with morning stiffness for more than 1 h. Plain X-ray examinations indicated hypertrophic periosteum at both femur, tibia, fibula (Fig 2). MRI by STIR showed bone-marrow oedema with synovitis and without erosion (Fig 3). CRP levels were fluctuated between 0.09 and 1.18 mg/dl. ESR ranged between 38 and 50 mm/hr. MMP-3 were always normal levels. Rheumatoid factor and anti-CCP antibody were normal as shown Table 1. Histological examination of skin indicated hyperplasia of sebaceous glands in the dermic layer, positive mucin deposition by Alucian blue staining and oedema and puffing of elastic fibre in all of the dermic layer which showed compatible with PDP (Fig 4) [6]. Based on clinical feature and laboratory examination, it was suggested that this patient was compatible to the diagnosis of pachydermoperiostosis (PDP). Therefore, we analysed the mutation of candidate genes such as HGPD and SLCO2A1 genes. As shown in Fig 5, mutation of SLCO2A1 gene were found as follows; Homozygous splice-site mutation (c.940 + 1G > A) resulted in deletion of exon 7 and replacement of amino acids (p.Arg288Glyfs*7). Continuing severe arthralgia urged to take many kinds of NSAID and finally caused gastro-intestinal bleeding and anaemia which improved by the proton pump inhibitors Treatments with methotrexate (6-10 mg/week) plus etanercept or tocilizumab were not effective on arthralgia. Recently, he had been treated with baricitinib (2 mg/day), and a slight effectiveness for arthralgia.