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Start free with EleplanFamilial isolated café-au-lait macules
ORPHA:2678Malformation syndrome
Also called CALs syndrome isolated · Familial CALMs isolated · Familial isolated CALSs · Familial isolated café-au-lait spots · Multiple isolated café-au-lait spots · Multiple isolated café-au-lait syndrome
What it is
A rare hyperpigmentation of the skin characterized by the presence of several café-au-lait macules without any other manifestations of neurofibromatosis or any other systemic disorder. The macules may appear in infancy, but usually they are detected after 2 years of age. Hyperpigmented lesions may have smooth or irregular borders. Their size vary from a few millimeters to more than 10 cm.
Key facts
- Age of onset
- Childhood
- Inheritance
- Autosomal dominant
- Classified as
- Malformation syndrome
Signs and symptoms
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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