Short stature and growth hormone deficiency in a girl with encephalocraniocutaneous lipomatosis and Jaffe-Campanacci syndrome: a case report

Choi, Eun Mi; Jung, Nani; Shim, Ye Jee; Choi, Hee Joung; Kim, Joon Sik; Kim, Heung Sik; Song, Kyung‐Bin; Lee, Hee Jung

doi:10.6065/apem.2016.21.4.240

Cited by 4 publications

(2 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In many reports on metaphyseal defects of the long bones diagnosed as JCS, investigation of the jaws is not reported and CGCG is not a constitutive finding to distinguish sporadic and syndromic lesions (67). As a rule, jaw findings are not considered in recent case reports on JCS (104)(105)(106)(107)(108)(109).…”

Section: Cgcg Of Jaws In Nf1mentioning

confidence: 99%

“…In other words, CGCG of the jaw is not a defining feature in diagnosing JCS in recent radiological, orthopedic, and genetic literature (67,79). In individual cases, pigmentation disorders like those of NF1 patients and NOF can also develop in patients affected with other syndromes (109). Among other diagnoses of bone lesions (see above), differential diagnosis of NOF is fibrous dysplasia and osteofibrous dysplasia Campanacci (110,111), the latter one with preference for the tibial cortex (31).…”

Section: Cgcg Of Jaws In Nf1mentioning

confidence: 99%

See 1 more Smart Citation

Neurofibromatosis Type 1 With Cherubism-like Phenotype, Multiple Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case Report With Literature Survey

Friedrich

Zustin

Luebke

et al. 2021

In Vivo

View full text Add to dashboard Cite

Background/Aim: Neurofibromatosis type 1 (NF) is an autosomal dominant hereditary disease. The cardinal clinical findings include characteristic skeletal alterations. Difficulties in diagnosis and therapy can arise if an individual has further illnesses. Case Report: This is a case report of a 16-year-old patient affected by NF1. She also suffered from Alagille syndrome and the consequences of fetal alcohol exposure. The patient's facial phenotype showed findings that could be assigned to one or more of the known diseases. The patient was referred for treating a cherubismlike recurrent central giant cell granuloma (CGCG) of the jaw. The patient developed bilateral, multilocular nonossifying fibromas (NOF) of the long bones of the lower extremity. Treatment of the skeletal lesions consisted of local curettage. While NOF regressed after surgery, the CGCG of the jaw remained largely unchanged. Extensive genetic tests confirmed a previously unknown germline mutation in the JAG1 gene, the germline mutation of the NF1 gene, and the somatic mutation in the NF1 gene in the diffuse plexiform neurofibroma, but not in the CGCG. Conclusion: Assigning facial findings to a defined syndrome is ambiguous in many cases and especially difficult in patients who have multiple diseases that can affect the facial phenotype. Surgical therapy should be adapted to the individual findings.Neurofibromatosis type 1 (NF1) is an autosomal dominant inherited disorder (1). The disease has a high penetrance (about 100%). However, the phenotype is extremely variable (2). The NF1 gene is located on chromosome 17q11.2 (3, 4). NF1 is a tumor suppressor gene syndrome (5) and the most common monogenetic disease predisposing to cancer (1). NF1 is primarily characterized by multiple skin tumors. The tumors are of neurogenic origin termed neurofibroma. Somatic mutations of NF1 gene in neurofibroma arise in Schwann cells or precursors of Schwann cells. Since Schwann cells originate from the neural crest, NF1 is rated among the diseases that are characterized by mutations in neural crest cells (6). The frequent and numerous neoplasms of NF1 patients arise primarily from the connective soft tissues. Genetic studies show that many of the different neoplasms arising in NF1 patients meet the criteria of somatic allelic loss of NF1 gene according to Knudson's two-hit hypothesis of tumor development (7). However, the unusual variety of symptoms and findings in NF1 patients go far beyond the spectrum of neoplastic lesions (1). Most cases are diagnosed by clinical examination (Table I). Diagnosis and treatment of NF1 patients can be made more difficult if other diseases develop in the same individual and 1711 This article is freely accessible online.

show abstract

Section: Cgcg Of Jaws In Nf1mentioning

confidence: 99%

Section: Cgcg Of Jaws In Nf1mentioning

confidence: 99%

Neurofibromatosis Type 1 With Cherubism-like Phenotype, Multiple Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case Report With Literature Survey

Friedrich

Zustin

Luebke

et al. 2021

In Vivo

View full text Add to dashboard Cite

show abstract

Intracranial arterial dolichoectasia and skull damage in a girl with Jaffe-Campanacci syndrome: a case report

Han

Wang

2019

Childs Nerv Syst

View full text Add to dashboard Cite

Jaffe-Campanacci syndrome; a case series and review of the literature

Sabry,

Abolenain,

Mostafa

et al. 2024

BMC Musculoskelet Disord

View full text Add to dashboard Cite

Background Jaffe-Campanacci syndrome is a rare syndrome, characterized by multiple non-ossifying fibromas (NOF) and cafe-au-lait patches. The name was coined in 1982 by Mirra after Jaffe who first described the case in 1958. Although it’s suggested there is a relation with Neurofibromatosis type 1, there is still no consensus on whether Jaffe-Campanacci syndrome is a subtype or variant of neurofibromatosis-1(NF-1). Case presentation In this article, we present a case series of 2 patients. The first case is a 13-year-old male with Jaffe-Campanacci syndrome who presented with a distal femur fracture. His father had positive features of both Jaffe-Campanacci syndrome and NF-1, while his sister only had features of NF-1, so we presented both. Conclusion Jaffe-Campanacci has a clear relationship with type 1 neurofibromatosis, which still has to be genetically established. Due to the presence of several large non-ossifying fibromas of the long bones, it is linked to a significant risk of pathological fractures. We concur with previous authors, that an osseous screening program should be performed for all patients with newly diagnosed type 1 neurofibromatosis, to identify non-ossifying fibromas and assess the potential for pathological fracture. Moreover, siblings of patients with NF-1 should be screened for multiple NOFs that may carry a high risk of pathological fractures.

show abstract

Short stature and growth hormone deficiency in a girl with encephalocraniocutaneous lipomatosis and Jaffe-Campanacci syndrome: a case report

Cited by 4 publications

References 12 publications

Neurofibromatosis Type 1 With Cherubism-like Phenotype, Multiple Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case Report With Literature Survey

Neurofibromatosis Type 1 With Cherubism-like Phenotype, Multiple Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case Report With Literature Survey

Intracranial arterial dolichoectasia and skull damage in a girl with Jaffe-Campanacci syndrome: a case report

Jaffe-Campanacci syndrome; a case series and review of the literature

Contact Info

Product

Resources

About