Café au lait spots: When and how to pursue their genetic origins

Lalor, Leah; Davies, Olivia M. T.; Basel, Donald; Siegel, Dawn H.

doi:10.1016/j.clindermatol.2020.03.005

Cited by 19 publications

(6 citation statements)

References 107 publications

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“…(table 1) Café-au-lait (CAL) spots are light to dark melanotic macules or patches that may be present at birth or develop In young childhood, and typically they are the rst manifestation of MAS that may appear at birth or shortly after [5-22-23]. this case's patch is very characteristic for MAS where the patch presents as unilateral light brown patch with jagged, irregular Boarders that classically resembles the "coast of Maine", and mimics the developmental Blaschko lines [22][23][24] (Figure 1). Those blaschko lines representive of the ectodermal migration patterns during embryogenesis, therefore they are a manifestation of the somatic mosaicism of MAS [12].…”

Section: Discussionmentioning

confidence: 99%

A rare subtype of McCune-Albright syndrome in a 5.4 years old girl: a case report and review of the literature

Kudsi

Hammal

et al. 2023

Preprint

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Background McCune–Albright syndrome (MAS) is a rare sporadic disease Characterized by café-au-lait lesions and hyperfunctional endocrinopathies and bone fibrous dysplasia with estimated prevalence ranges between 1/100,000 and 1/1,000,000. This subtype of McCune-Albright is very rare and forms 1% of the of all cases.Case presentation We present an atypical case of McCune–Albright syndrome missing fibrous dysplasia in a 5.4 years old girl that manifest with recurrent vaginal bleeding, initially diagnosed as precocious puberty. On clinical examination large skin pigmentation was noted on the back, X-ray revealed no radiolucent lesions in numerous bones which excludes Polyostotic fibrous dysplasia and makes the diagnosis dependent on the other 2 out of 3 features: Café-au-lait skin pigmentation and Autonomous endocrine hyperfunction (which represented in this case as a precocious puberty). The patient was treated successfully with letrozole and after 5 months of follow-up, she stopped having vaginal bleeding.Conclusions McCune-Albright syndrome can presents without fibrous dysplasia and the physician must be able to detect the syndrome in cases of vaginal bleeding and café-au-lait spots in young females. Additionally following-up and surveillance are necessary to detect other manifestations of the syndrome that might appear subsequently.

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Section: Discussionmentioning

confidence: 99%

A rare subtype of McCune-Albright syndrome in a 5.4 years old girl: a case report and review of the literature

Kudsi

Hammal

et al. 2023

Preprint

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“…Significantly, in addition to typical dermatology manifestations of piebaldism, two probands (Probands 1 and 2) in this study also had CALMs. CALMs may present at birth or childhood, and are association with several genetic disorders, such as Neurofibromatosis type 1 (NF1), Legius syndrome ( 12 ). NF1 is an autosomal dominant disease characterized by CALM, freckling, neurofibroma, and Lisch nodule ( 13 ).…”

Section: Discussionmentioning

confidence: 99%

Novel pathogenic variants in KIT gene in three Chinese piebaldism patients

Wang

Zhang²,

Hu³

et al. 2022

Front. Med.

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BackgroundPiebaldism is a rare autosomal dominant disease, and roughly 75% patients had KIT gene mutations. Up to date, approximately 90 KIT mutations causing piebaldism were reported.MethodsTo identify KIT gene mutations in three pediatric piebaldism patients from different families and explore the genotype-phenotype correlation, peripheral blood DNA were collected from probands and their parents. Whole-exome sequencing was performed to detect potential disease-causing variants in the three probands. Putative variants were validated by Sanger sequencing.ResultsHeterozygous variants of c.2469_2484del (p.Tyr823*), c.1994G > C (p.Pro665Leu), and c.1982_1983insCAT (p.662_663insIle) in KIT gene were detected in three probands. These variants were all novel and classified as pathogenic/likely pathogenic variants according to the interpretation guidelines of American College of Medical Genetics and Genomics and the Association for Molecular Pathology. The probands carrying variants located in tyrosine kinase domain exhibited a more severe phenotype.ConclusionThe piebaldism in three families was caused by novel heterozygous KIT variants. The severity of phenotypes is related with the types and locations of different mutations. Our results further provided evidence for genetic counseling for the three families.

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“…Differently from NF1, in McCune Albright syndrome CALMs typically have irregular or jagged margins. Differential diagnosis is necessary and often challenging [14,15].…”

Section: Cutaneous Findingsmentioning

confidence: 99%

Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype–Phenotype Correlations

Peduto

Zanobio

Nigro

et al. 2023

Cancers

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Neurofibromatosis type 1 (NF1) is an autosomal dominant condition, with a birth incidence of approximately 1:2000–3000, caused by germline pathogenic variants in NF1, a tumor suppressor gene encoding neurofibromin, a negative regulator of the RAS/MAPK pathway. This explains why NF1 is included in the group of RASopathies and shares several clinical features with Noonan syndrome. Here, we describe the main clinical characteristics and complications associated with NF1, particularly those occurring in pediatric age. NF1 has complete penetrance and shows wide inter- and intrafamilial phenotypic variability and age-dependent appearance of manifestations. Clinical presentation and history of NF1 are multisystemic and highly unpredictable, especially in the first years of life when penetrance is still incomplete. In this scenario of extreme phenotypic variability, some genotype–phenotype associations need to be taken into consideration, as they strongly impact on genetic counseling and prognostication of the disease. We provide a synthetic review, based on the most recent literature data, of all known genotype–phenotype correlations from a genetic and clinical perspective. Molecular diagnosis is fundamental for the confirmation of doubtful clinical diagnoses, especially in the light of recently revised diagnostic criteria, and for the early identification of genotypes, albeit few, that correlate with specific phenotypes.

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Café au lait spots: When and how to pursue their genetic origins

Cited by 19 publications

References 107 publications

A rare subtype of McCune-Albright syndrome in a 5.4 years old girl: a case report and review of the literature

A rare subtype of McCune-Albright syndrome in a 5.4 years old girl: a case report and review of the literature

Novel pathogenic variants in KIT gene in three Chinese piebaldism patients

Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype–Phenotype Correlations

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