Niikawa et al., "Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis
," Cellular Signalling, vol.
Other entities associating ectodermal and skeletal phenotypes were reviewed, particularly Albright osteodystrophy, acrodysostosis
, and other brachydactyly syndromes, but several features of the presentation were inconsistent with these diagnoses.
However, then and since, patients with acrodysostosis, have been found to exhibit biochemical abnormalities found in PHP-II.
Acrodysostosis is characterized by skeletal dysplasia and has characteristic features, including BD, facial dysmorphism and, in some cases, mental retardation (43,44,45,46,47).
INTRODUCTION: Acrodysostosis is an extremely rare skeletal dysplasia characterized by abnormally short and malformed bones of the hands and feet, nasal hypoplasia, and mental retardation.
The most unique and constant feature of acrodysostosis is generalized peripheral dysostosis.
Table 1 Etiology of Secondary Protrusio Acetabuli Infection Gonococcus Echinococcus Tuberculosis Syphilis Streptococcus Staphylococcus Inflammatory Rheumatoid Arthritis Spondyloarthritides Idiopathic Chondrolysis Metabolic Paget's Disease Osteomalacia Hyperparathyroidism Genetic Osteogenesis Imperfecta Acrodysostosis
Marfan Syndrome Ehler-Danlos Syndrome Trisomy 18 Stickler Syndrome Neurofibromatosis Sickle Cell Disease Trichorhinophalangeal Syndrome Homocystinuria Neoplastic Primary Neoplasm (e.g., Hemangioma) Metastatic Disease Radiation Induced Osteonecrosis Trauma Acetabular Fracture
Acrodysostosis is a rare congenital multisystem condition characterized by skeletal dysplasia, varying degrees of intellectual disability, and possible resistance to multiple G protein-coupled receptor signalling hormones.
Identification of a novel heterozygous missense mutation of the PDE4D gene c.569C>T (p.Ser190Phe) in a familial case of acrodysostosis type 2 affecting the serine target of protein kinase-A phosphorylation within the motif RRESF.
Almost all features of PHP-Ia including hormone resistance, are also common in acrodysostosis
However, this classification do not include recently described other related diseases like acrodysostosis (Acro) or progressive osseous heteroplasia (POH), as well as clinical and genetic/epigenetic background of the different subtypes.
Additionally, two other diseases are caused by the defects involved in signaling pathway of Gs[alpha], acrodysostosis caused by heterozygous mutations in PRKAR1A and PDE4D (7,8) and hypertension and brachydactyly syndrome (HTNB) caused by heterozygous mutations in PDE3A have been identified (9).