Cafe-Au-Lait Spots Latest Advances

A man with axillary and inguinal freckling, café-au-lait spots, and cutaneous nodules

Journal: Nederlands tijdschrift voor geneeskunde

Published: January 22, 2026

Early Manifestation of McCune-Albright Syndrome in a 32-Month-Old Female: A Rare Case Report.

Journal: Journal of investigative medicine high impact case reports

Published: August 22, 2025

Clinical and molecular characterization of 148 pediatric neurofibromatosis type 1 patients: a single-center study identifying 14 novel variants.

Journal: European journal of pediatrics

Published: July 18, 2025

A novel multion in a Chinese family with neurofibromatosis type 1: A case report.

Journal: Medicine

Published: July 12, 2025

Incidental finding of a pathogenic mosaicism in the NF1 gene detected by near infrared fundus imaging - a case report.

Journal: Ophthalmic genetics

Published: December 16, 2024

Jaffe-Campanacci Syndrome: A Case Report and Review of the Literature.

Journal: Cureus

Published: December 14, 2024

Dual Diagnosis of Sifrim-Hitz-Weiss Syndrome and Neurofibromatosis Type 1: Expanding the Phenotype of Cardiac Features in Sifrim-Hitz-Weiss Syndrome and Quick Literature Review.

Journal: American journal of medical genetics. Part A

Published: November 20, 2024

A Novel Compound Nonsense Variant in CYP27B1 Causes an Atypical Form of Vitamin D-Dependent Rickets Type 1A: A Case Report of Two Siblings in a Mexican Family.

Journal: Diseases (Basel, Switzerland)

Published: September 09, 2024

Germline mismatch repair gene mutations in children with tumors: a case series from two centers.

Journal: Translational pediatrics

Published: September 06, 2024

Fanconi Anaemia associated with café au lait spots: A rare case report.

Journal: JPMA. The Journal of the Pakistan Medical Association

Published: August 20, 2024

The treatment of infantile giant café au lait spot using golden parameter therapy with a high fluence 1064-nm Q-switched Nd: YAG laser.

Journal: The Journal of dermatological treatment

Published: August 12, 2024

Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.

Journal: European journal of pediatrics

Published: August 07, 2024

Cafe-Au-Lait Spots Latest Advances

Find the Latest Research About Cafe-Au-Lait Spots

A man with axillary and inguinal freckling, café-au-lait spots, and cutaneous nodules

A man with axillary and inguinal freckling, café-au-lait spots, and cutaneous nodules

Early Manifestation of McCune-Albright Syndrome in a 32-Month-Old Female: A Rare Case Report.

Early Manifestation of McCune-Albright Syndrome in a 32-Month-Old Female: A Rare Case Report.

Clinical and molecular characterization of 148 pediatric neurofibromatosis type 1 patients: a single-center study identifying 14 novel variants.

Clinical and molecular characterization of 148 pediatric neurofibromatosis type 1 patients: a single-center study identifying 14 novel variants.

A novel multion in a Chinese family with neurofibromatosis type 1: A case report.

A novel multion in a Chinese family with neurofibromatosis type 1: A case report.

Incidental finding of a pathogenic mosaicism in the NF1 gene detected by near infrared fundus imaging - a case report.

Incidental finding of a pathogenic mosaicism in the NF1 gene detected by near infrared fundus imaging - a case report.

Jaffe-Campanacci Syndrome: A Case Report and Review of the Literature.

Jaffe-Campanacci Syndrome: A Case Report and Review of the Literature.

Dual Diagnosis of Sifrim-Hitz-Weiss Syndrome and Neurofibromatosis Type 1: Expanding the Phenotype of Cardiac Features in Sifrim-Hitz-Weiss Syndrome and Quick Literature Review.

Dual Diagnosis of Sifrim-Hitz-Weiss Syndrome and Neurofibromatosis Type 1: Expanding the Phenotype of Cardiac Features in Sifrim-Hitz-Weiss Syndrome and Quick Literature Review.

A Novel Compound Nonsense Variant in CYP27B1 Causes an Atypical Form of Vitamin D-Dependent Rickets Type 1A: A Case Report of Two Siblings in a Mexican Family.

A Novel Compound Nonsense Variant in CYP27B1 Causes an Atypical Form of Vitamin D-Dependent Rickets Type 1A: A Case Report of Two Siblings in a Mexican Family.

Germline mismatch repair gene mutations in children with tumors: a case series from two centers.

Germline mismatch repair gene mutations in children with tumors: a case series from two centers.

Fanconi Anaemia associated with café au lait spots: A rare case report.

Fanconi Anaemia associated with café au lait spots: A rare case report.

The treatment of infantile giant café au lait spot using golden parameter therapy with a high fluence 1064-nm Q-switched Nd: YAG laser.

The treatment of infantile giant café au lait spot using golden parameter therapy with a high fluence 1064-nm Q-switched Nd: YAG laser.

Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.

Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.