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BMC Musculoskeletal Disorders Jun 2024Jaffe-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... (Review)
Review
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.
Topics: Humans; Male; Adolescent; Neurofibromatosis 1; Cafe-au-Lait Spots; Female; Fibroma; Femoral Fractures
PubMed: 38937801
DOI: 10.1186/s12891-024-07581-0 -
Journal Der Deutschen Dermatologischen... Jun 2024
PubMed: 38924376
DOI: 10.1111/ddg.15487 -
Journal Der Deutschen Dermatologischen... Jun 2024
PubMed: 38923839
DOI: 10.1111/ddg.15455 -
Cureus May 2024Pigmented lesions in the oral cavity can arise from the accumulation of external substances or internal pigments, resulting in black or brown discoloration. The etiology...
Pigmented lesions in the oral cavity can arise from the accumulation of external substances or internal pigments, resulting in black or brown discoloration. The etiology can be categorized as physiologic, reactive, neoplastic, idiopathic, or indicative of systemic illness. Several systemic drugs have been linked to the development of oral and/or cutaneous pigmentation, either by stimulating the production of melanin or by the accumulation of the drug or its byproducts. The medications most commonly associated with this condition include antimalarials, hormones, oral contraceptives, phenothiazines, chemotherapeutics, amiodarone, minocycline, zidovudine, clofazimine, and ketoconazole. The aim of this case report is to illustrate the drug-induced appearance of multiple melanotic macules in an 89-year-old female patient. The patient was referred to the Department of Oral Medicine and Pathology, School of Dentistry, Aristotle University of Thessaloniki, Greece, complaining of the recent and constant appearance of black spots in her oral cavity. Her medical history revealed a multitude of prescribed drugs, with citalopram being the most recently prescribed one, approximately one year prior to the examination. The clinical examination revealed multiple melanotic macules, on the upper and lower lip as well as on the hard and soft palate. Based on these findings, a biopsy of a melanotic macule of the lip was carried out. The histopathological examination showed that the basal layer of the stratified squamous epithelium exhibited hyperpigmentation (melanin-pigmented basal cells). In addition, scattered melaninophages were noted in lamina propria. Psychotropic drugs associated with cutaneous hyperpigmentation include citalopram. Therefore, our case constitutes an exception since citalopram induced intraoral and perioral, instead of cutaneous, hyperpigmentation.
PubMed: 38910786
DOI: 10.7759/cureus.60889 -
Cureus May 2024Intralesional steroid injections avoid potential side effects associated with systemic administration, such as hypothalamus-pituitary-adrenal axis suppression,...
Intralesional steroid injections avoid potential side effects associated with systemic administration, such as hypothalamus-pituitary-adrenal axis suppression, endocrine changes, allergic reactions, syncope, and blindness, but do not spare local side effects, such as pain, hemorrhage, ulceration, atrophy, hypopigmentation, calcification, secondary infection, granuloma formation, and allergic reaction. Linear leukoderma following intralesional steroid is a rare but known complication. Here, we report a case of a 23-year-old female presented with cutaneous linear depigmentation along the volar aspect of her left forearm developed three months following a single episode of injection triamcinolone acetonide for ganglion cyst.
PubMed: 38903338
DOI: 10.7759/cureus.60783 -
Case Reports in Gastroenterology 2024Gastrointestinal stromal tumours (GISTs) are an important, though uncommon, cause of obscure gastrointestinal bleeding and may rarely be associated with genodermatoses...
INTRODUCTION
Gastrointestinal stromal tumours (GISTs) are an important, though uncommon, cause of obscure gastrointestinal bleeding and may rarely be associated with genodermatoses such as neurofibromatosis type 1 (NF1). NF1-related GISTs have unique phenotypic features compared with sporadic GISTs and may elude diagnosis due to their predilection for the small bowel.
CASE PRESENTATION
We report a case of a 45-year-old Singaporean woman with café-au-lait macules and cutaneous neurofibromas who presented with occult obscure gastrointestinal bleeding and was eventually discovered to have a bleeding jejunal GIST. This finding, considered together with her cutaneous signs, eventually led to the diagnosis of NF1.
CONCLUSION
Genodermatoses and their gastrointestinal complications are likely under-reported in adult Southeast Asian populations and deserve greater awareness from gastroenterologists practising in this region.
PubMed: 38895585
DOI: 10.1159/000538688 -
Frontiers in Pediatrics 2024Genetic disposition is a major etiologic factor in childhood cancer. More than 100 cancer predisposing syndromes (CPS) are known. Surveillance protocols seek to mitigate...
INTRODUCTION
Genetic disposition is a major etiologic factor in childhood cancer. More than 100 cancer predisposing syndromes (CPS) are known. Surveillance protocols seek to mitigate morbidity and mortality. To implement recommendations in patient care and to ascertain that the constant gain of knowledge forces its way into practice specific pediatric CPS programs were established.
PATIENTS AND METHODS
We retrospectively analyzed data on children, adolescents, and young adults referred to our pediatric CPS program between October 1, 2021, and March 31, 2023. Follow-up ended on December 31, 2023.
RESULTS
We identified 67 patients (30 male, 36 female, 1 non-binary, median age 9.5 years). Thirty-five patients were referred for CPS surveillance, 32 for features suspicious of a CPS including café-au-lait macules ( = 10), overgrowth ( = 9), other specific symptoms ( = 4), cancer suspicious of a CPS ( = 6), and rare neoplasms ( = 3). CPS was confirmed by clinical criteria in 6 patients and genetic testing in 7 (of 13). In addition, 6 clinically unaffected at-risk relatives were identified carrying a cancer predisposing pathogenic variant. A total of 48 patients were eventually diagnosed with CPS, surveillance recommendations were on record for 45. Of those, 8 patients did not keep their appointments for various reasons. Surveillance revealed neoplasms ( = 2) and metachronous tumors ( = 4) by clinical ( = 2), radiological examination ( = 2), and endoscopy ( = 2). Psychosocial counselling was utilized by 16 (of 45; 35.6%) families.
CONCLUSIONS
The diverse pediatric CPSs pose several challenges necessitating interdisciplinary care in specified CPS programs. To ultimately improve outcome including psychosocial well-being joint clinical and research efforts are necessary.
PubMed: 38887560
DOI: 10.3389/fped.2024.1410061 -
American Journal of Medical Genetics.... Jun 2024Harel-Yoon syndrome (HAYOS) is a unique neurodevelopmental genetic disorder characterized by hypotonia, spasticity, intellectual disability, hypertrophic cardiomyopathy,...
Harel-Yoon syndrome (HAYOS) is a unique neurodevelopmental genetic disorder characterized by hypotonia, spasticity, intellectual disability, hypertrophic cardiomyopathy, and global developmental delay. It primarily results from mutations in the ATAD3A gene, pivotal for mitochondrial function. This report presents a 5-year-old girl with HAYOS harboring a de novo heterozygous variant c.1064G>A; (p.G355D) in ATAD3A. Her clinical profile includes delayed milestones, hypotonia, spastic quadriplegia, and ptosis. Notably, dermatologic anomalies such as hypopigmentation, café au lait macules, and freckling are observed, expanding the known phenotype of HAYOS. The inclusion of dermatologic features challenges our understanding of the syndrome and emphasizes the importance of further research to elucidate the molecular connections between ATAD3A mutations and dermatologic manifestations.
PubMed: 38877820
DOI: 10.1002/ajmg.a.63647 -
Journal of the American Psychiatric... Jun 2024The objective of this discussion paper is to illuminate the importance of early identification and treatment of Stevens-Johnson Syndrome (SJS) and toxic epidermal...
OBJECTIVE
The objective of this discussion paper is to illuminate the importance of early identification and treatment of Stevens-Johnson Syndrome (SJS) and toxic epidermal necrolysis (TEN). SJS/TEN may occur as quickly as 4 days, more commonly 4 to 8 weeks after starting a new medication and early identification is essential.
METHODS
A review of literature revealed there is a lack of diagnostic awareness related to the clinical presentation and diverse populations at risk for this devastating syndrome.
RESULTS
A Boolean search was conducted, and six quantitative and qualitative research articles were discovered that indicate a knowledge disparity between "rash" versus SJS/TEN. Research indicates evidence-based best clinical practices for nurses and health care practitioners for assessment of risks, clinical presentation, and treatment.
CONCLUSIONS
Prompt diagnosis and discontinuation of the suspected medication will reduce potential life-threatening sequelae.
PubMed: 38868958
DOI: 10.1177/10783903241252810 -
Actas Dermo-sifiliograficas Jun 2024
PubMed: 38857844
DOI: 10.1016/j.ad.2024.02.034