Pycnodysostosis in children and adults

Hald, Jannie Dahl; Nielsen, Signe Beck; Gregersen, Pernille Axel; Gjørup, Hans; Langdahl, Bente

doi:10.1016/j.bone.2023.116674

Cited by 14 publications

(8 citation statements)

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“…Low circulating IGF-1 levels and GH deficiency were seen in 60% of our cohort. After a year of growth rate follow-up, GHST of patients with severe short stature was initiated early, as it was proposed that early rhGH treatment restores mid-facial hypoplasia, and decreases mandibular complications as well as OSAS in patients with pycnodysostosis [ 3 , 16 ]. As recommended, cranial MRI was performed in all of the patients; one patient had partial empty sella, a previously non-reported finding.…”

Section: Discussionmentioning

confidence: 99%

“…The optimum timing for rhGH has not been decided. However, as early rhGH treatment was shown to restore disease features and complications, increasing IGF-1 levels, it is advised to start as soon as the diagnosis is established [ 3 , 16 ]. As being acknowledged, growth response after one year of rhGH treatment is the most important predictive factor of overall success [ 7 ].…”

Section: Discussionmentioning

confidence: 99%

“…First described in 1962, clinical features include short stature (100%), osteosclerosis (100%), recurrent bone fractures (70%), characteristic facial features (midfacial retrusion [frontal bossing, maxillary hypoplasia, small chin, obtuse mandibular angle]), delayed closure of cranial sutures (67%), and acro-osteolysis of the distal phalanx (90%) [ 1 - 3 ]. Located on 1q21, biallelic pathogenic loss of function mutations of cathepsin K gene ( CTSK ) leads to pycnodysostosis [ 3 , 4 ]. Disease prevalence is one to five cases per 1,000,000, where less than 500 individuals with pycnodysostosis have been currently reported [ 4 ].…”

Section: Introductionmentioning

confidence: 99%

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Evaluation of Clinical Characteristics and Growth Hormone Response in a Rare Skeletal Dysplasia: Pycnodysostosis

Ünsal,

Atar

2023

Cureus

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Introduction Pycnodysostosis is a rare osteosclerotic skeletal dysplasia; its clinical features include short stature, characteristic facial features, increased bone fragility, and acro-osteolysis of the distal phalanx. Lack of clear guidelines for treatment and follow-up in rare diseases such as pycnodysostosis with growth hormone (GH) deficiency poses a difficulty for the clinician. This study aims to identify clinical, radiological, and endocrine findings of patients with pycnodysostosis focusing on the first year of recombinant human growth hormone (rhGH) treatment response. The eminence of this study is that it presents clinical experience with rhGH, providing an approach for future similar cases. Methods Three girls and two boys from three different families diagnosed with pycnodysostosis via clinical, radiological, and genetic evaluation followed up in the pediatric endocrinology clinic between 2022 and 2023 were enrolled in this study. Clinical findings, anthropometric measurements (weight, height, body mass index [BMI]), and laboratory, radiological, and genetic examinations were evaluated retrospectively. Participants were evaluated for GH deficiency using L-DOPA and clonidine tests if growth rate was below -2 standard deviation score (SDS) for gender and age after one-year follow-up. Results Complaints on admission were short stature (80%) and recurrent bone fractures (20%). Characteristic facial features and brachydactyly were seen in all the patients. Median height SDS on admission was -3.0 (range: -1.9 to -3.8). Median height SDS on last clinic visit was -3.2 (range: -1.7 to -4.2) at a median age of 8 years (range: 3.5-14 years). BMI was normal in four patients, while one was overweight. Bone mineral densitometry z-score was high, and two patients had bone fractures following minor trauma, while one had recurrent fractures. Two siblings (first and second cases) and the third case were diagnosed with GH deficiency, and anterior pituitary hormones were normal otherwise. One had partial empty sella in hypophyseal magnetic resonance imaging. rhGH (33 mcg/kg/day, subcutaneously) was started. Growth rate of the first, second, and third cases increased from 3.3, 3.1, 3.9 to 5, 4.3, 7.2 cm/year, respectively. Prior to rhGH, two had adenoid hypertrophy which was stable following rhGH. Growth rate follow-up of the fourth case continues, while the fifth case, the only participant who has reached adult height, has normal height according to age and gender normative. Conclusion Although rare, pycnodysostosis should not be overlooked in a patient with characteristic facial features, disproportionate short stature, and recurrent fractures. GH deficiency should be evaluated early if growth rate is declining. rhGH may restore growth rate and the possibility of catch-up in growth in patients with pycnodysostosis and GH deficiency. Hence, after first year of rhGH, growth rate of patients with pycnodysostosis is lower when com...

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Evaluation of Clinical Characteristics and Growth Hormone Response in a Rare Skeletal Dysplasia: Pycnodysostosis

Ünsal,

Atar

2023

Cureus

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“…PYCD (OMIM 265800) is a rare autosomal recessive skeletal dysplasia characterized by generalized progressive osteosclerosis due to the absence of active CTSK (Hald et al, 2023). The incidence of this disease is 11 in 1.7 million births with a male to female ratio of 1:1.…”

Section: Major Dental Phenotypes In Rare Genetic Bone Diseasesmentioning

confidence: 99%

Dental abnormalities in rare genetic bone diseases: Literature review

Iwata,

Sah,

Chen

et al. 2023

Clinical Anatomy

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Currently, over 500 rare genetic bone disorders are identified. These diseases are often accompanied by dental abnormalities, which are sometimes the first clue for an early diagnosis. However, not many dentists are sufficiently familiar with phenotypic abnormalities and treatment approaches when they encounter patients with rare diseases. Such patients often need dental treatment but have difficulties in finding a dentist who can treat them appropriately. Herein we focus on major dental phenotypes and summarize their potential causes and mechanisms, if known. We discuss representative diseases, dental treatments, and their effect on the oral health of patients and on oral health‐related quality of life. This review can serve as a starting point for dentists to contribute to early diagnosis and further investigate the best treatment options for patients with rare disorders, with the goal of optimizing treatment outcomes.

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“…Moreover, these individuals may have dental anomalies, such as delayed eruption and retention of primary teeth, hypoplastic enamel, and increased susceptibility to caries. Additionally, their bones are particularly fragile and prone to fractures, partly due to reduced mineralization and increased bone density [ 4 ].…”

Section: Introductionmentioning

confidence: 99%

Pyknodysostosis: A case report of an 8-year-old male with a rare genetic disorder

Faraji,

Nikkhah,

Goli

et al. 2023

International Journal of Surgery Case Reports

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Pycnodysostosis in children and adults

Cited by 14 publications

References 50 publications

Evaluation of Clinical Characteristics and Growth Hormone Response in a Rare Skeletal Dysplasia: Pycnodysostosis

Evaluation of Clinical Characteristics and Growth Hormone Response in a Rare Skeletal Dysplasia: Pycnodysostosis

Dental abnormalities in rare genetic bone diseases: Literature review

Pyknodysostosis: A case report of an 8-year-old male with a rare genetic disorder

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