المؤلفون: Bangun, Kristaninta, Kreshanti, Prasetyanugraheni, Tania, Vika, Ariani Aswin, Yulia, Menna, Clara, Aurino, Leorca

المصدر: Cleft Palate Craniofacial Journal; Mar2024, Vol. 61 Issue 3, p527-533, 7p

مصطلحات موضوعية: TOE abnormalities, MOSAICISM, AUDITORY perception testing, EPILEPSY, CLEFT palate, MICROCEPHALY, KARYOTYPES, DEVELOPMENTAL disabilities, CUTANEOUS manifestations of general diseases, CLEFT lip, CHROMOSOME abnormalities, HEALTH care teams, HEARING disorders, COMPUTED tomography, CAFE-au-Lait spots (Disease), INTELLECTUAL disabilities, RARE diseases, EARLY diagnosis, NEUROLOGIC examination, SYMPTOMS

مستخلص: This report presents a case of ring chromosome 7 syndrome with bilateral cleft lip and palate. A four-year-old boy presented with bilateral cleft lip and palate, microcephaly, clenched toes, cafe-au-lait spots, a history of epilepsy, and severe intellectual disability. Genetic karyotyping revealed 46 XY r(7) (p22q36). His cheiloplasty and delayed palatoplasty were successful. A review of 22 previous r(7) patients revealed that 22.7% had cleft lip and/or palate. This case demonstrates the importance of a multidisciplinary evaluation for cleft patients, particularly those with syndromic features and global developmental delay. [ABSTRACT FROM AUTHOR]

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المؤلفون: Romagnuolo, Maurizio, Moltrasio, Chiara, Gasperini, Serena, Marzano, Angelo Valerio, Cambiaghi, Stefano

المصدر: Children; Dec2023, Vol. 10 Issue 12, p1920, 7p

مصطلحات موضوعية: HAIR diseases, SEQUENCE analysis, MUCOPOLYSACCHARIDOSIS II, MUCOPOLYSACCHARIDOSIS I, ITCHING, CAFE-au-Lait spots (Disease), MUCOPOLYSACCHARIDOSIS

مستخلص: Congenital dermal melanocytosis (DM) represents a common birthmark mainly found in children of Asian and darker skin phototype descent, clinically characterized by an oval blue-grey macule or macules, commonly located on the lumbosacral area. In rare DM cases, when presenting with diffuse macules persisting during the first years of life, it could represent a cutaneous feature of mucopolysaccharidoses (MPS). Extensive congenital DM is actually associated with Hurler syndrome (MPS type I) and Hunter syndrome (MPS type II), although several reports also described this association with MPS type VI and other lysosomal storage disorders (LySD), including GM1 gangliosidosis, mucolipidosis, Sandhoff disease, and Niemann–Pick disease. Here, we present the case of a two-year-old boy presenting with extensive dermal melanocytosis, generalized hypertrichosis, and chronic itch, harboring a heterozygous variant of uncertain significance, NM_152419.3: c.493C>T (p.Pro165Ser), in the exon 4 of HGSNAT gene, whose mutations are classically associated with MPS IIIC, also known as Sanfilippo syndrome. This is the first report that highlights the association between extensive congenital DM and MPS type IIIC, as well as a pathogenetic link between heterozygous LySD carrier status and congenital DM. We speculate that some cases of extensive congenital DM could be related to heterozygous LySD carriers, as a manifestation of a mild clinical phenotype. [ABSTRACT FROM AUTHOR]

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المؤلفون: EKER, Nursah, TOKUC, Ayse Gulnur, TUFAN, Burcu TAS, SENAY, Emel

المصدر: Marmara Medical Journal; May2023, Vol. 36 Issue 2, p192-196, 5p

مصطلحات موضوعية: OPTIC nerve diseases, CLINICS, GENETIC testing, DISEASES, NEUROFIBROMATOSIS 1, CAFE-au-Lait spots (Disease)

مستخلص: Objective: Neurofibromatosis type 1 (NF1) is the most common hereditary neurocutaneous syndrome. The most crucial morbidity of NF1 is tumors that may develop. Cases with café-au-lait macules (CALMs) which is the first clinical finding of NF1, due to the anxiety of its associated morbidity, are referred to the pediatric oncology clinic. In this study, we aimed to examine the characteristics of the patients who applied to our outpatient clinic with CALMs. Patients and Methods: The data of 157 pediatric patients who applied to our institution with the diagnosis of CALMs between June 2010 and November 2020 were analyzed retrospectively. Results: There were 157 pediatric cases referred to us for CALMs. According to the National Institutes of Health (NIH) diagnostic criteria, 109 (69.4%) cases were diagnosed with NF1. The diagnosis of 22 cases with NF1 were supported by genetic examination. Optic glioma was detected in 39 (24.8%) cases. In 15 (38.4%) of cases with optic glioma, visual functions were also affected. Second diagnostic criterion did not develop during the follow-up period, except for macules, in 48 cases (30.5%). Conclusion: In cases with multiple CALMs, the probability of NF1 diagnosis is high, and close and regular follow-up is of great importance in catching the development of the second clinical criterion and minimizing its morbidity. [ABSTRACT FROM AUTHOR]

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المؤلفون: KILIC, Mehmet, GUNBEY, Omer, TASKIN, Erdal, DAG, Bunyamin, KUCUK, Elif, GUNBEY, Fatma Betul, SEN, Askin

المصدر: Asthma Allergy Immunology / Astim Allerji Immunoloji; Apr2023, Vol. 21 Issue 1, p3-10, 8p

مصطلحات موضوعية: CLINICAL pathology, ATAXIA telangiectasia, NEVUS, RETROSPECTIVE studies, NEUTROPENIA, HYPOPIGMENTATION, EOSINOPHILIA, LYMPHOPENIA, CAFE-au-Lait spots (Disease)

مستخلص: Objective: Ataxia-telangiectasia is a rare genetically inherited disease with multisystem involvement. We evaluated the clinical and laboratory features of patients diagnosed in our clinic with ataxia-telangiectasia. Materials and Methods: The files of children diagnosed with ataxia-telangiectasia in our clinic between 2008 and 2021 were evaluated retrospectively. Results: Twelve children diagnosed with ataxia-telangiectasia were included in the study. Fifty percent of our patients were boys, and 50% were girls. There was a family history of ataxia-telangiectasia in seven patients and consanguineous marriage between the parents of 11 patients. The mean age at diagnosis of the patients was 5.5 years. Our cases had telangiectasia in the conjunctiva (n=8), a nevus (n=5), cafe-au-lait spots (n=5), hypopigmentation (n=4), and skin telangiectasia (n=3). Eosinophilia (n=1), lymphopenia (n=7), and neutropenia (n=1) were also found. Our patients were determined to be below -2 SD for age in terms of IgE levels in 25%, IgA levels in 58.3%, and IgG levels in 8.3%. Antibody responses were negative for anti-hepatitis B surface (HBs) IgG (n=5), anti-measles IgG (n=7), anti-mumps IgG (n=6), anti-VZV IgG (n=6), anti-tetanus IgG (n=6), and anti-hepatitis A virus IgG (n=3). Seven patients had homozygous ataxia-telangiectasia gene (ATM) mutations. We most commonly detected homozygous c.4940T>G (p.L1647R) and homozygous c.6047A>G (p.D2016) mutations. Alpha-fetoprotein (AFP) levels were elevated in all patients. We started intravenous immunoglobulin (IVIG) therapy for 10 patients. Conclusion: Ataxia and telangiectasia were the most common findings of the disease, followed by immunological findings, growth retardation, and pigmentation abnormalities. [ABSTRACT FROM AUTHOR]

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المؤلفون: Sakaniva, Vittória Christina Fátima Dias, Gringo, Caroline Paula Oliveira, Yaedú, Renato Yassutaka Faria, Pagin, Otavio

المصدر: Oral Radiology; Oct2022, Vol. 38 Issue 4, p645-650, 6p

مصطلحات موضوعية: MENTAL foramen, PROFESSIONS, MANDIBLE, DENTISTS, DENTAL radiography, NEUROFIBROMATOSIS 1, CAFE-au-Lait spots (Disease)

مستخلص: Objective: To report radiographic characteristics of a case of a patient with neurofibromatosis involving the maxillomandibular complex and to point out other dental radiographic characteristics that are found in the scientific literature to help the dentist when faced with a case of neurofibromatosis. Short communication: Male, 31 years old, referred for radiographic examination. During anamnesis and physical examination, lesions were noted, which were papules and café-au-lait patches larger than 1 cm on the trunk and upper limbs, further to Lisch nodules (brown spots on the iris) and axillary and inguinal ephelides. When investigating the history of the disease, the patient reported the presence of such skin atlterations since birth and mentioned that his mother had been diagnosed with neurofibromatosis. During radiographic evaluation, a significant increase in the caliber of the mandibular canal and mental foramen was observed, bilaterally. Conclusion: Completing the combination of skin characteristics present in the patient, anamnesis data and current history of the disease with interpretation of radiographic alterations, it was possible to arrive at the diagnostic hypothesis of Neurofibromatosis type 1 and correct clinical management. Therefore, it is extremely important for the dentist to be aware of the clinical, physical and radiographic characteristics that this condition presents for the correct management and success of dental treatment. [ABSTRACT FROM AUTHOR]

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المؤلفون: Gharekhanloo, Farideh, Lorestani, Saba, Khazaei, Salman

المصدر: Gastroenterology & Hepatology from Bed to Bench; Summer2022, Vol. 15 Issue 3, p282-286, 5p

مصطلحات موضوعية: LIVER radiography, BIOPSY, LIVER, MAGNETIC resonance imaging, MEDICAL referrals, NEUROFIBROMATOSIS 1, ABDOMINAL pain, COMPUTED tomography, CAFE-au-Lait spots (Disease), FAMILY history (Medicine)

مستخلص: Herein, we report an extremely rare case of histopathologically proven neurofibromatosis of the liver. A 15-year-old male, a known case of type I neurofibromatosis (NF1), referred to our hospital with a complaint of right upper quadrant pain. He had a café-au-lait spot and positive family history of NF1 in his mother. Laboratory data was within normal limits, and computed tomography (CT) revealed a large predominantly less attenuated infiltrative liver mass along the porta hepatis with extension to both lobes of the liver. Magnetic resonance imaging showed a large hypo-signal mass in T1-weighted images and hypersignal lesion in T2-sequences with faint enhancement, periportal distribution, and encasing of major branches of the portal vein without evidence of narrowing and invasion. A CT-guided biopsy was taken from both liver lobe lesions, and pathological diagnosis of the biopsy specimens confirmed plexiform neurofibromas of the liver. According to the extensive intrahepatic extension and periportal infiltration, the mass was unrespectable. Radiologists need to be familiar with the typical imaging features of the uncommon hepatic neoplasms. If imaging findings are not typical or diagnostic, a further biopsy should be performed again. [ABSTRACT FROM AUTHOR]

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المؤلفون: Legoupil, S., Bessis, D., Picard, F., Mallet, S., Mazereeuw, J., Phan, A., Dupin-Deguine, D., Kalamarides, M., Chiaverini, C., Research Group of the French Society of Paediatric Dermatology

المصدر: Orphanet Journal of Rare Diseases; 6/21/2022, Vol. 17 Issue 1, p1-8, 8p

مصطلحات موضوعية: NEUROFIBROMATOSIS 2, ACOUSTIC neuroma, CHILD patients, CASTLEMAN'S disease, CUTANEOUS manifestations of general diseases, MACULES, RESEARCH, NEUROLOGICAL disorders, CROSS-sectional method, RESEARCH methodology, SCHWANNOMAS, EVALUATION research, SKIN tumors, COMPARATIVE studies, NEUROFIBROMATOSIS 1, CAFE-au-Lait spots (Disease), DISEASE complications

مستخلص: Background: Neurofibromatosis type 2 (NF2) is characterized by bilateral vestibular schwannoma (VS) more often in adults but a severe paediatric form with multiple neurological tumours is also described. In this population, a early diagnosis is important to prevent the onset of neurological complications but is difficult, particularly without a familial history. Cutaneous manifestations, which may precede VS or neurological tumours by several years, may contribute to an early diagnosis, but specific studies are lacking. The objective of this study was to characterize cutaneous manifestations of NF2 in a paediatric population.Results: This observational, descriptive and multicentric study was conducted from April 2019 to April 2020 in seven academic French hospitals. We included patients ≤ 18 years old who fulfilled the Manchester diagnostic criteria or had a pathogenic mutation identified in the NF2 gene. All patients underwent a dermatological examination guided by a standardized questionnaire. 21 children were included, of whom 20 had at least one skin tumour (mean number 5 ± 4.6 [range 0-15]), which led to a diagnosis in four cases. In the other 17 cases, the diagnosis of NF2 was based on neurosensory complications (n = 10), family screening (n = 4) or ocular signs (n = 3). Before the NF2 diagnosis, 15 children had at least one "undiagnosed" cutaneous tumour that did not lead to a specific management. Patients' dermatological examination also revealed < 6 non specific café au lait macules (n = 15), hypopigmented macules (n = 12) with more than 3 lesions in 4 cases, and purple reticulated macules of the trunk (n = 4).Conclusion: Dermatological lesions are frequent and early in children with NF2 but rarely lead to the diagnosis. Cutaneous schwannomas are the most frequent but are often underdiagnosed. Café au lait macules are frequent, but atypical and mostly in small numbers. Multiple hypopigmented macules seem suggestive although inconsistent. The sensitivity of reticulated capillary malformation-like lesions remains to be assessed by further studies. [ABSTRACT FROM AUTHOR]

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المؤلفون: Bazzocchi, Alberto, Campanacci, Laura, Aparisi Gómez, Maria Pilar, Guglielmi, Giuseppe

المصدر: Seminars in Musculoskeletal Radiology; Apr2022, Vol. 26 Issue 2, p197-200, 4p

مصطلحات موضوعية: SOFT tissue tumors, RADIOGRAPHY, CONNECTIVE tissue tumors, MEDICAL specialties & specialists, CAFE-au-Lait spots (Disease)

مستخلص: This history page in the series "Leaders in Musculoskeletal Radiology" is dedicated to the memory and achievements of the Italian scientist Mario Campanacci, whose name is connected to the medical eponym Jaffe-Campanacci syndrome and to the field and progress of musculoskeletal oncology. [ABSTRACT FROM AUTHOR]

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المؤلفون: Temel, Aslı Bilgiç¹ asli.bilgictemel@saglik.gov.tr, Bassorgun, Cumhur Ibrahim², Nur, Banu³, Alpsoy, Erkan⁴

المصدر: Indian Journal of Dermatology, Venereology & Leprology. Jul/Aug2018, Vol. 84 Issue 4, p474-477. 4p.

مصطلحات موضوعية: *DERMAL melanocytosis, *CAFE-au-Lait spots (Disease), *MELANOCYTES, *MACULES, *SKIN discoloration, *BUTTOCKS, *NEVUS, *DISEASE complications, *NEUROCUTANEOUS disorders, *DIAGNOSIS

مستخلص: The article presents case study of a 5‑month‑old baby who was diagnosed with Mongolian spots and segmental café au lait macules. Topics discussed include observation of dermal melanocytes using punch biopsy; information on phacomatosis pigmentovascularis; and observation of pan‑dermal dendritic and pigmented melanocytosis.

المؤلفون: Malinverni, Andréa C.M., Yamashiro Coelho, Érika M., Chen, Kelin, Colovati, Mileny E., Soares Pinho Cernach, Mirlene C., Bragagnolo, Silvia, Melaragno, Maria Isabel melaragno.maria@unifesp.br

المصدر: Cytogenetic & Genome Research. Jan2018, Vol. 153 Issue 2, p81-85. 5p. 1 Diagram, 1 Chart.

مصطلحات موضوعية: *CAFE-au-Lait spots (Disease), *MUSCLE dysmorphia, *CHROMOSOMAL translocation, *CHROMOSOMES, *PHENOTYPES

مستخلص: Partial monosomy 21 results in a great variability of clinical features that may be associated with the size and location of the deletion. In this study, we report a 22-month-old girl who showed a 45,XX,add(12)(p13)dn,-21 karyotype. The final cytogenomic result was 45,XX,der(12)t(12; 21)(p13;q22.11) dn,-21.arr[hg19] 21q11.2q22.11(14824453_33868129)×1 revealing a deletion from 21pter to 21q22.11. Clinical manifestation of the patient included hypertonia, a long philtrum, epicanthic folds, low-set ears, and café-au-lait macules - a phenotype considered as mild despite the relatively large size of the deletion compared to patients from the literature. [ABSTRACT FROM AUTHOR]