Hereditary osteodysplasia with acro-osteolysis (the Hajdu-Cheney syndrome)

Elias, Alan N.; Pinals, Robert S.; Anderson, H. Clarke; Gould, Leo V.; Streeten, David H. P.

doi:10.1016/0002-9343(78)90851-3

Cited by 75 publications

(80 citation statements)

References 19 publications

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“…Urinary hydroxyproline, 25-hydroxy-and 1,25-dihydroxyvitamin D levels, PTH, and 24-hour urinary calcium and phosphate levels have also usually been normal when determined (6,7,10). This was true of our patient.…”

supporting

confidence: 69%

“…Transmission electron micrographs of iliac crest showed normal osteoclasts, but the osteoblasts had unusually dilated smooth endoplasmic reticulum and Golgi apparatus (10). Elias et a1 (6) biopsied the bone of an involved distal phalanx and found that the central portion was replaced by small blood vessels with thickened walls separated by fibrous tissue which contained many small nerves. TEM also showed prominent fibroblasts and a few granulated cells resembling mast cells.…”

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confidence: 99%

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Idiopathic familial acroosteolysis: Histomorphometric study of bone and literature review of the Hajdu‐Cheney syndrome

Udell

Schumacher

Kaplan

et al. 1986

Arthritis & Rheumatism

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We describe a 27-year-old man with familial acroosteolysis involving 9 fingers. Bone biopsy of an affected digit showed osteolysis with no tetracycline deposition, rare osteoclasts, increased vascularity, and numerous mast cells. In contrast, the iliac crest bone showed active ,bone remodeling and normal doubletetracycline labeling. We believe mast cells deserve further study as possible factors in this form of localized osteolysis.Idiopathic acroosteolysis is an uncommon disorder which involves painful osteolysis of the distal phalanges. When it occurs in a familial form, with a characteristic facies, generalized osteoporosis, and early loss of teeth (l), the condition is termed HajduChencey syndrome. We describe a patient and his mother: the fifth family reported to have this disorder. for the first time in this syndrome. The non-decalcified iliac crest bone biopsy specimen showed active bone remodeling features.Case report. The patient was a 27-year-old white man with a 7-year history of gradually progressive deformity in 9 fingers and loss of distal phalangeal mass. He had continuous pain in the tips of all involved fingers. He denied having Raynaud's phenomenon, frostbite, or burns, or having been exposed to ergot, vinyl chloride, or trauma. He had no history of acute or chronic arthritis, myalgias, skin rash, tight skin, or symptoms in his feet. Graves' disease had been diagnosed 2 years after the onset of his hand symptoms. This had been treated successfully with 1311, 2 years previously; however hypothyroidism had evolved and was being controlled with levothyroxine sodium, 0.1 mg daily. In addition, he was taking diazepam, 5 mg 3 times daily. He also had impotence, noted approximately since the diagnosis of thyroid disease.The patient's mother had similar "shrinking fingers," which first appeared approximately at age 50, progressed for 2 years, then became asymptomatic and have remained stable for the past 15 years. His father had normal hands, and had died at age 64 of lung cancer. The patient has 2 sisters, ages 37 and 38, who are in good health without musculoskeletal problems.The patient was short, with a broad face and prominent eyebrows (Figure 1). His temperature was 98"F, pulse rate 68/minute, blood pressure 110/70, respirations 16/minute, weight 162 lbs, and height 66 inches. He had slight proptosis, but extraocular muscle and funduscopic examination results were normal. He had numerous caries, but all his teeth were

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supporting

confidence: 69%

mentioning

confidence: 99%

Idiopathic familial acroosteolysis: Histomorphometric study of bone and literature review of the Hajdu‐Cheney syndrome

Udell

Schumacher

Kaplan

et al. 1986

Arthritis & Rheumatism

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“…Although the distal phalangeal osteolytic lesions would suggest increased localized bone resorption, there is no information on the mechanisms responsible for the generalized osteoporosis. The focal osteolysis is accompanied by neovascularization, inflammation and fibrosis (72,73,74) . Iliac crest biopsies have been reported in a small number of cases of HCS and revealed decreased trabecular bone, normal or increased bone remodeling, and normal or decreased bone formation (73,75,76,77) .…”

Section: B Gain-of-function Mutations Of Notch Signalingmentioning

confidence: 99%

Mechanisms in Endocrinology: Notch signaling in skeletal health and disease

Zanotti

Canalis

2013

European Journal of Endocrinology

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Notch receptors are single-pass transmembrane proteins that determine cell fate. Upon Notch-ligand interactions, proteolytic cleavages release the Notch intracellular domain (NICD) which translocates to the nucleus to regulate the transcription of target genes, including Hairy enhancer of split (Hes) and Hes-related with YRPW-motif (Hey). Notch is critical for skeletal development and activity of skeletal cells, and dysregulation of Notch signaling is associated with human diseases affecting the skeleton. Inherited or sporadic mutations in components of the Notch signaling pathway are associated with spondylocostal and spondylothoracic dysostoses, and recessive brachydactyly, diseases characterized by skeletal patterning defects. Inactivating mutations of the Notch ligand JAG1 or of NOTCH2 are associated with Alagille syndrome, and activating mutations in NOTCH2 are associated with Hajdu-Cheney syndrome. Individuals affected by Hajdu-Cheney syndrome exhibit osteolysis in distal phalanges, and osteoporosis. NOTCH is activated in selected tumors, such as osteosarcoma, and in breast cancer cells that form osteolytic bone metastases. In conclusion, Notch regulates skeletal development and bone remodeling, and gain- or loss-of-function mutations of Notch signaling result in important skeletal diseases.

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“…Less-common features include headache, decreased hearing, joint dislocations, hirsutism, recurrent infections visual abnormalities, and syndactyly [6]. Although the patient in this report did not have acro-osteolysis, this finding usually appears late in childhood, and has been detected as late as the 4th decade [28].…”

Section: Discussionmentioning

confidence: 97%

Kidney abnormalities in Hajdu-Cheney syndrome

1996

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We report a 14-year-old boy from Saudi Arabia with the Hajdu-Cheney syndrome who also had bilateral hypoplastic kidneys and chronic renal failure. This report, along with others in the literature, suggest that renal abnormalities, including cystic disease, vesico-ureteral reflux, glomerulonephritis, chronic renal failure, and hypertension, may be an integral part of this syndrome. Recognizing this fact, may help in the early diagnosis, prevention, and treatment of renal failure in these patients.

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Hereditary osteodysplasia with acro-osteolysis (the Hajdu-Cheney syndrome)

Cited by 75 publications

References 19 publications

Idiopathic familial acroosteolysis: Histomorphometric study of bone and literature review of the Hajdu‐Cheney syndrome

Idiopathic familial acroosteolysis: Histomorphometric study of bone and literature review of the Hajdu‐Cheney syndrome

Mechanisms in Endocrinology: Notch signaling in skeletal health and disease

Kidney abnormalities in Hajdu-Cheney syndrome

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