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La Clinica Terapeutica 2020To better understand the real prevalence of cutaneous manifestations, in Neurofibromatosis type 1. (Review)
Review
OBJECTIVE
To better understand the real prevalence of cutaneous manifestations, in Neurofibromatosis type 1.
MATERIALS AND METHODS
We reviewed all clinical charts of 1102 NF1 patients followed by February 1983 to February 2020 at the "Sapienza" University of Rome, Italy. NF1 patients are seen usually every year by a dermatologist.
RESULT
Café-au-lait macules were shown in 1063 patients (96.5%), axillary and inguinal freckling in 991 (90%) and neurofibromas in 861 (78.1%). Other skin manifestations included: lipoma (6.2%), nevus anemicus (3.9%), psoriasis (3.4%), spilus nevus (3.2%), juvenile xanthogranuloma (3.2%), vitiligo (2.3%), Becker's nevus (1.9%), melanoma (0.7%) and poliosis (0.5%).
CONCLUSION
Neurofibromatosis type 1 is a multisystem disorder primarily involving the skin and nervous system. The clinical manifestations are extremely variable even within a family. This study was performed to delineate the prevalence of cutaneous manifestations in NF1.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Child; Child, Preschool; Female; Humans; Italy; Male; Middle Aged; Neurofibromatosis 1; Prevalence; Skin Diseases; Young Adult
PubMed: 32901776
DOI: 10.7417/CT.2020.2242 -
JAAD Case Reports May 2018
PubMed: 29693080
DOI: 10.1016/j.jdcr.2017.09.037 -
Indian Dermatology Online Journal 2022
PubMed: 36386743
DOI: 10.4103/idoj.IDOJ_679_20 -
Cancers Jan 2021Neurofibromatosis type 1 (NF1) is a complex autosomal dominant disorder associated with germline mutations in the NF1 tumor suppressor gene. NF1 belongs to a class of... (Review)
Review
Neurofibromatosis type 1 (NF1) is a complex autosomal dominant disorder associated with germline mutations in the NF1 tumor suppressor gene. NF1 belongs to a class of congenital anomaly syndromes called RASopathies, a group of rare genetic conditions caused by mutations in the Ras/mitogen-activated protein kinase pathway. Generally, NF1 patients present with dermatologic manifestations. In this review the main features of café-au-lait macules, freckling, neurofibromas, juvenile xanthogranuloma, nevus anemicus and other cutaneous findings will be discussed.
PubMed: 33530415
DOI: 10.3390/cancers13030463 -
Pediatric Dermatology 1996We report a patient with phakomatosis pigmentovascularis IIb and numerous iris hamartomas. Phakomatosis pigmentovascularis IIb is characterized by the simultaneous...
We report a patient with phakomatosis pigmentovascularis IIb and numerous iris hamartomas. Phakomatosis pigmentovascularis IIb is characterized by the simultaneous occurrence of a nevus flammeus, a mongolian spot, and sometimes a nevus anemicus in the same individual, with systemic involvement. To our knowledge, the association with multiple iris hamartomas has been reported only once. This second patient suggests that the association might be more common. Additional reports will indicate if such an association is more frequent than is now assumed.
Topics: Child, Preschool; Diagnosis, Differential; Female; Hamartoma; Humans; Iris; Nevus, Blue; Nevus, Pigmented; Skin Neoplasms; Syndrome
PubMed: 8919522
DOI: 10.1111/j.1525-1470.1996.tb01184.x -
Italian Journal of Dermatology and... Feb 2021Nevus depigmentosus (ND) is an uncommon congenital nonprogressive hypopigmented skin disorder that can be seen anywhere on the body. We considered other depigmenting...
BACKGROUND
Nevus depigmentosus (ND) is an uncommon congenital nonprogressive hypopigmented skin disorder that can be seen anywhere on the body. We considered other depigmenting disorders and focused on distinguishing ND from vitiligo and tuberous sclerosis complex in infancy.
METHODS
The diagnosis of patients with nevus depigmentosus was made differentiating it from nevus anemicus, pityriasis alba, tuberous sclerosis complex, vitiligo and other depigmenting disorders.
RESULTS
Of the 37 individuals with nevus depigmentosus evaluated, 36 were children, twenty-two (59.4%) were males and 15 (40.5%) were females, with male to female ratio 1.4:1.
CONCLUSIONS
Distinguishing ND from other disorders with depigmentation can be challenging, in particular in case of tuberous sclerosis complex and vitiligo in infancy.
Topics: Child; Female; Humans; Hypopigmentation; Male; Nevus; Pigmentation Disorders; Skin Neoplasms; Vitiligo
PubMed: 33228333
DOI: 10.23736/S2784-8671.20.06681-X -
Actas Dermo-sifiliograficas Mar 2023The neurofibromatosis 1 (NF1) diagnosis is challenging in young children without a family history of NF1. The aims of this study were to estimate diagnostic delays in... (Observational Study)
Observational Study
BACKGROUND AND OBJECTIVES
The neurofibromatosis 1 (NF1) diagnosis is challenging in young children without a family history of NF1. The aims of this study were to estimate diagnostic delays in children without a family history of NF1 and to examine the effects of using café au lait macules and skin fold freckling as a single diagnostic criterion.
PATIENTS AND METHODS
Retrospective, descriptive, observational study of all patients diagnosed with NF1 before the age of 18 years who were seen at our hospital. The medical records of those included were reviewed to identify the date on which the diagnostic criteria of NF1 were objectified. The patients were categorized into 2 groups: those with a known parental history of NF1 and those without. Café au lait macules and skin fold freckling were assessed as a single diagnostic criterion, and genetic evidence was considered to confirm highly suspicious cases.
RESULTS
We studied 108 patients younger than the age of 18 years with a diagnosis of NF1. Mean (SD) age at diagnosis was 3.94 (±3.8) years for the overall group, 1 year for patients with a parental history of NF1, and 4 years and 8 months for those without. Diagnosis was therefore delayed by 3 years and 8 months in patients without a family history.
CONCLUSION
Skin lesions were the first clinical manifestation of NF1 in most patients. We believe that the National Institutes of Health's diagnostic criteria for NF1 should be updated to aid diagnosis in young children.
Topics: Humans; Child; Child, Preschool; Adolescent; Neurofibromatosis 1; Retrospective Studies; Cafe-au-Lait Spots; Skin Diseases; Melanosis
PubMed: 36370836
DOI: 10.1016/j.ad.2022.10.036 -
Actas Dermo-sifiliograficas 2022The diagnosis of Neurofibromatosis type 1 (NF1) is usually delayed in children without a family history. We aimed to define the prevalence and characteristics of...
BACKGROUND
The diagnosis of Neurofibromatosis type 1 (NF1) is usually delayed in children without a family history. We aimed to define the prevalence and characteristics of prevalent skin manifestations in NF1 compared to the general population, which continue to be excluded from the diagnostic criteria for NF1.
PATIENTS AND METHODS
Case-control study, matched by age groups, in which 108 patients with a diagnosis of NF1 and 137 healthy controls were included.
RESULTS
The prevalence of nevus anemicus (NA) (p<0.001) and juvenile xanthogranulomas (JXG) (p<0.001) was significantly higher in the population affected by NF1 than in the control population. A specificity of 99.27% [confidence interval (CI): 95.4-99.96%] and a positive predictive value (PPV) of 98.80% [92.54-99.94%] were estimated for NA and a specificity of 99.27% [95.4-99.96%] and a PPV of 92.86% [64.17-99.63%] for JXG in the diagnosis of NF1 in children who present 6 or more Café-au-lait macules. Statistically significant differences were also evidenced in the distribution by phototypes (p 0.025) and in relation to generalized itching with no other cause (p<0.001).
CONCLUSIONS
NA and JXG are relevant clinical findings for the diagnosis of NF1, especially during the first years of life. We consider that its inclusion among the diagnostic criteria of the disease should be evaluated.
Topics: Child; Humans; Neurofibromatosis 1; Case-Control Studies; Cafe-au-Lait Spots; Pigmentation Disorders; Xanthogranuloma, Juvenile; Prevalence; Inflammation
PubMed: 35636506
DOI: 10.1016/j.ad.2022.05.014 -
Actas Dermo-sifiliograficas 2022The diagnosis of Neurofibromatosis type 1 (NF1) is usually delayed in children without a family history. We aimed to define the prevalence and characteristics of...
BACKGROUND
The diagnosis of Neurofibromatosis type 1 (NF1) is usually delayed in children without a family history. We aimed to define the prevalence and characteristics of prevalent skin manifestations in NF1 compared to the general population, which continue to be excluded from the diagnostic criteria for NF1.
PATIENTS AND METHODS
Case-control study, matched by age groups, in which 108 patients with a diagnosis of NF1 and 137 healthy controls were included.
RESULTS
The prevalence of nevus anemicus (NA) (P<.001) and juvenile xanthogranulomas (JXG) (P<.001) was significantly higher in the population affected by NF1 than in the control population. A specificity of 99.27% (confidence interval): 95.4-99.96%] and a positive predictive value (PPV) of 98.80% [92.54-99.94%] were estimated for NA and a specificity of 99.27% [95.4-99.96%] and a PPV of 92.86% [64.17-99.63%] for JXG in the diagnosis of NF1 in children who present 6 or more Café-au-lait macules. Statistically significant differences were also evidenced in the distribution by phototypes (P=.025) and in relation to generalized itching with no other cause (P<.001).
CONCLUSIONS
NA and JXG are relevant clinical findings for the diagnosis of NF1, especially during the first years of life. We consider that its inclusion among the diagnostic criteria of the disease should be evaluated.
Topics: Child; Humans; Neurofibromatosis 1; Case-Control Studies; Cafe-au-Lait Spots; Pigmentation Disorders; Xanthogranuloma, Juvenile; Prevalence; Inflammation
PubMed: 36162491
DOI: 10.1016/j.ad.2022.09.011