Related Experiment Video
Updated: Feb 26, 2026
Combining Reflectance Confocal Microscopy with Optical Coherence Tomography for Noninvasive Diagnosis of Skin Cancers via Image Acquisition
Published on: August 18, 2022
Association of Piebaldism with Café-au-Lait Macules
Naveen Kumar Kansal1, Saurabh Agarwal2
1Department of Dermatology and Venereology, All India Institute of Medical Sciences, Rishikesh 249201, Uttarakhand, India; kansalnaveen@gmail.com.
Insights
This case report details a newborn diagnosed with piebaldism and café-au-lait macules (CALMs). Early diagnosis and counseling are crucial for managing this rare genetic skin condition.
Area of Science:
- Dermatology
- Clinical Genetics
- Pediatrics
Background:
- Piebaldism is a rare autosomal dominant disorder characterized by congenital, benign, white macules and patches due to melanocyte absence.
- Café-au-lait macules (CALMs) are common hyperpigmented birthmarks that can be associated with various genetic syndromes.
Observation:
- A 45-day-old infant presented with asymptomatic, depigmented macules since birth, notably rhomboid-shaped on the abdomen and lower extremities.
- The infant also exhibited a depigmented forehead macule with leukotrichia and three hyperpigmented CALMs on the chest.
Findings:
- Clinical examination revealed characteristic depigmented macules and CALMs, leading to a diagnosis of piebaldism with CALMs.
- No consanguinity or significant family history was reported, and the infant was otherwise developing normally.
Implications:
- This case highlights the importance of recognizing piebaldism and associated CALMs in neonates.
- Genetic counseling is essential to discuss potential risks of associated syndromes like Legius syndrome or neurofibromatosis type 1 (NF1) and plan for regular follow-up.
Abstract:
A 45-day-old infant was brought by his parents to the dermatology outpatient department with chief complaints of asymptomatic, depigmented lesions that had been present on his skin since birth. On mucocutaneous examination, large rhomboid-shaped depigmented macules were noted on the abdomen and lower extremities bilaterally (Figure 1). A depigmented macule was present on the forehead, with white hair (leukotrichia; a "developing forelock") (Figure 2). Three hyperpigmented lesions (café-au-lait macules [CALMs]) were also noted on the chest (Figure 1a). There was no history of consanguinity, and the family history was negative. The infant was otherwise normal for his age. A diagnosis of "piebaldism with CALMs" was made, and his parents were counseled about the disease and its progression, and possible treatment options as the child grew. They were also informed about a currently unquantifiable risk of future development of Legius syndrome or neurofibromatosis type 1 (NF1), and were counseled for regular follow-up.
More Related Videos
12:37Pharmacologic Induction of Epidermal Melanin and Protection Against Sunburn in a Humanized Mouse Model
Published on: September 7, 2013
13:26Measuring Connectivity in the Primary Visual Pathway in Human Albinism Using Diffusion Tensor Imaging and Tractography
Published on: August 11, 2016
Related Concept Videos
01:39Epistasis
01:30Skin Cancer
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...
01:35Pedigree Analysis
01:19Pigmentation
Melanin occurs in two primary forms: eumelanin that provides black and brown pigment and pheomelanin that provides red color. Dark-skinned individuals produce more melanin than those with pale...
01:23Skin Diseases and Disorders
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
01:33Pleiotropy