Pachydermoperiostosis
| Classification according to ICD-10 | |
|---|---|
| M89.4 | Other hypertrophic osteoarthropathy -
Marie Bamberger Syndrome - Pachydermoperiostosis |
| ICD-10 online (WHO version 2019) | |
The Pachydermoperiostosis is a very rare congenital form of primary hypertrophic osteoarthropathy with the features clubbed fingers , thickening of the skin ( pachydermia ) and the periosteum of the long bones .
Synonyms are: familial pachydermoperiostosis; PDP; Touraine-Solente-Golé Syndrome; Uehlinger Syndrome; Generalized hyperostosis with pachydermia; Latin osteodermopathia hypertrophica .
Rosenthal-Klöpfer syndrome is an outdated term.
The first description comes from the year 1868 by Nicolaus Friedreich
The names refer to descriptions from 1935 by the French dermatologists Albert Touraine (1883 - 1961), Gabriel Solente and Laurent Golé and from 1942 by the Zurich pathologist Erwin Uehlinger .
distribution
The frequency is not known, the male sex is affected 7 times more often. Inheritance occurs as an autosomal dominant or autosomal - recessive .
root cause
Depending on the underlying mutation , the following types can be distinguished:
- dominant form (PHOAD)
- recessive form 1 (PHOAR1) with mutations in the HPGD - gene on chromosome 4 locus q34.1
Mutations of this gene can also be found in cranio-osteoarthropathy
- recessive form 2 (PHOAR2) with mutations in the SLCO2A1 gene on chromosome 3 locus q22.1-q22.2
Classification
Clinically, three sub-forms can be distinguished:
- complete form with pachydermia and periostitis
- incomplete form with bone changes but no pachydermia
- Forme frustrated with significant pachydermia, but little or no skeletal changes
Clinical manifestations
Clinical criteria are:
- Manifestation in childhood or in adolescents
- Hyperostosis on the periosteum, including the ligaments and small joints
- rheumatic changes with joint effusion , arthritis , acroosteolysis
- Drumstick fingers , watch glass nails
- extensive thickening of the skin (pachydermia) on forearms, lower legs and face
- Cutis verticis gyrata
- Hyperhidrosis , seborrhea
- Acromegaly
- Possibly congenital heart defects such as persistent ductus arteriosus
- rarely osteoporosis
In addition to kyphosis , neurological changes occur.
diagnosis
The diagnosis is based on clinical and radiological examination including magnetic resonance imaging and / or skeletal scintigraphy.
Differential diagnosis
The following are to be distinguished:
- Cranio-Osteoarthropathy
- secondary hypertrophic osteoarthropathy
- Chronic recurrent multifocal osteomyelitis
- SAPHO syndrome
- Camurati-Engelman Syndrome
- Thyroid-related changes in the fingers and toes
- syphilitic osteomyelitis
literature
- M. Castori, L. Sinibaldi, R. Mingarelli, RS Lachman, DL Rimoin, B. Dallapiccola: Pachydermoperiostosis: an update. In: Clinical genetics. Volume 68, Number 6, December 2005, pp. 477-486, doi: 10.1111 / j.1399-0004.2005.00533.x , PMID 16283874 (review).
- DL Rimoin: Pachydermoperiostosis (idiopathic clubbing and periostosis). Genetic and physiologic considerations. In: The New England Journal of Medicine . Volume 272, May 1965, pp. 923-931, doi: 10.1056 / NEJM196505062721801 , PMID 14274448 .
- L. Yuan, X. Chen, Z. Liu, D. Wu, J. Lu, G. Bao, S. Zhang, L. Wang, Y. Wu: Novel SLCO2A1 mutations cause gender differentiated pachydermoperiostosis. In: Endocrine Connections. [Electronic publication before printing] August 2018, doi: 10.1530 / EC-18-0326 , PMID 30352415 , PMC 6223238 (free full text).
- MM Karimova, ZY Halimova, YM Urmanova, M. Korbonits, T. Cranston, AB Grossman: Pachydermoperiostosis Masquerading as Acromegaly. In: Journal of the Endocrine Society. Volume 1, number 2, February 2017, pp. 109–112, doi: 10.1210 / js.2016-1084 , PMID 29264471 , PMC 5686560 (free full text).
Individual evidence
- ↑ a b c d e f Pachydermoperiostosis. In: Orphanet (Rare Disease Database).
- ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
- ↑ Encyclopedia Dermatology
- ↑ Who named it
- ^ N. Friedreich: Hyperostosis of the entire skeleton. In: Arch Path Anat 1868, Vol. 43, pp. 83-87
- ↑ Who named it
- ^ A. Touraine, G. Solente, L. Golé: Un syndrome ostéodermopathique. The pachyderme plicaturée avec pachypériostose des extrémités. In: La presse médicale , Paris, 1935, vol. 42, pp. 1820-1824.
- ↑ E. Uehlinger: Hyperostosis generalisata with pachydermia (idiopathic familial generalized osteophytosis Friedreich-Erb-Arnold). In: Virchows Archiv [Pathol Anat] , 1942, Vol. 308, p. 396
- ↑ a b emedicine
- ↑ Hypertrophic osteoarthropathy, primary, dominant autosomal. In: Online Mendelian Inheritance in Man . (English)
- ↑ Hypertrophic osteoarthropathy, primary autosomal recessive 1 In: Online Mendelian Inheritance in Man . (English)
- ↑ Hypertrophic osteoarthropathy, primary autosomal recessive 2. In: Online Mendelian Inheritance in Man . (English)
