Related Experiment Video
Updated: May 1, 2026
12:37
Pharmacologic Induction of Epidermal Melanin and Protection Against Sunburn in a Humanized Mouse Model
Published on: September 7, 2013
17.8K
Oral pigmentation in McCune-Albright syndrome
Dominique C Pichard1, Alison M Boyce2, Michael T Collins3
1Department of Dermatology, Georgetown University Hospital/Washington Hospital Center, Washington, DC.
JAMA Dermatology
|March 28, 2014
Summary
Oral pigmentation is an underrecognized feature of McCune-Albright syndrome (MAS). Recognizing this finding can aid in the earlier clinical diagnosis of MAS, especially in children and young adults.
Area of Science:
- Endocrinology
- Genetics
- Dermatology
Background:
- McCune-Albright syndrome (MAS) is a rare genetic disorder characterized by café au lait spots, polyostotic fibrous dysplasia, and hyperfunctioning endocrinopathies.
- Oral lentigines are not typically associated with MAS, making it an underrecognized clinical manifestation.
Observation:
- This study presents four patients with MAS who developed oral mucosal pigmentation between childhood and early adulthood.
- All patients exhibited characteristic MAS features, including endocrinopathies and café au lait pigmentation.
Findings:
- Oral pigmentation is an underrecognized finding in McCune-Albright syndrome.
- This manifestation typically appears later in development compared to other mucosal lentiginosis syndromes.
Implications:
- Expanding the recognized phenotype of MAS to include oral pigmentation can aid in earlier clinical diagnosis.
- This finding broadens the differential diagnosis for syndromes presenting with oral pigmentation.
Related Concept Videos
01:19Pigmentation
3.8K
The color of the skin is influenced by a number of pigments, including melanin, carotene, and hemoglobin. Recall that melanin is produced by cells called melanocytes, which are found scattered throughout the stratum basale of the epidermis. The melanin is transferred to the keratinocytes via melanosomes.
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...
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...
3.8K
01:14Changes in Skin Color: Clinical Perspectives
3.6K
The first thing a clinician sees is the skin, so the examination of the skin should be part of any thorough physical examination. Most skin disorders are relatively benign, but a few, including melanomas, can be fatal if untreated. A couple of the more noticeable disorders, albinism and vitiligo, affect the appearance of the skin and its accessory organs.
Albinism
Albinism is a genetic disorder that affects (completely or partially) the coloring of skin, hair, and eyes. The defect is primarily...
Albinism
Albinism is a genetic disorder that affects (completely or partially) the coloring of skin, hair, and eyes. The defect is primarily...
3.6K
01:39Epistasis
37.3K
In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...
37.3K
01:33Pleiotropy
31.2K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
31.2K
01:09Epistasis Analysis
4.9K
Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
4.9K