title: Pseudohypoparathyroidism vs. tricho-rhino-phalangeal syndrome: patient reclassification.
abstract: OBJECTIVE
  Given that tricho-rhino-phalangeal syndrome (TRPS) and pseudohypoparathyroidism/pseudopseudohypoparathyroidism (PHP/PPHP) are very rare monogenic disorders that share some features (distinctive facies, short stature, brachydactyly and, in some patients, intellectual disability) that lead to their misdiagnosis in some cases, our objective was to identify clinical, biochemical or radiological signs that could help to distinguish these two syndromes.
  
  
  RESULTS
  We report on two cases, which were referred to the Endocrinology and Pediatric Endocrinology Services for obesity. Clinical evaluation initially suggested the diagnosis of PHP-Ia [phenotype suggestive of Albright hereditary osteodystrophy (AHO) with parathyroid hormone (PTH) resistance] and PPHP (phenotype resembling AHO, without PTH resistance), but (epi)genetic analysis of the GNAS locus ruled out the suspected diagnosis. Further clinical re-evaluation prompted us to suspect TRPS, and this was confirmed genetically.
  
  
  CONCLUSIONS
  TRPS was mistakenly identified as PHP/PPHP because of the coexistence of obesity and brachydactyly, with PTH resistance in one of the cases. Specific traits such as sparse scalp hair and a pear-shaped nose, present in both cases, can be considered pathognomonic signs of TRPS, which could help us to reach a correct diagnosis.
authors.forename: Arrate
authors.initials: A
authors.lastname: Pereda
authors.forename: Sharona
authors.initials: S
authors.lastname: Azriel
authors.forename: Mariona
authors.initials: M
authors.lastname: Bonet
authors.forename: Intza
authors.initials: I
authors.lastname: Garin
authors.forename: Blanca
authors.initials: B
authors.lastname: Gener
authors.forename: Beatriz
authors.initials: B
authors.lastname: Lecumberri
authors.forename: Guiomar Pérez
authors.initials: GP
authors.lastname: de Nanclares
mesh_terms: D000015:Abnormalities, Multiple / Q000145:classification* / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D001483:Base Sequence; D059327:Brachydactyly / Q000473:pathology; D002648:Child; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D005385:Fingers / Q000002:abnormalities / Q000473:pathology; D006197:Hair / Q000002:abnormalities / Q000473:pathology; D006225:Hand / Q000473:pathology; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D009666:Nose / Q000002:abnormalities / Q000473:pathology; D009765:Obesity; D010641:Phenotype; D011556:Pseudopseudohypoparathyroidism / Q000145:classification* / Q000175:diagnosis* / Q000235:genetics; D012097:Repressor Proteins; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; D012097:Repressor Proteins; C108387:TRPS1 protein, human; D014157:Transcription Factors