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Cutis laxa in Kabuki make-up syndrome
Mario Vaccaro1, Damiano Carmelo Salpietro, Silvana Briuglia
1Institute of Dermatology, University of Messina, Messina, Italy. Mario.Vaccaro@unime.it
Journal of the American Academy of Dermatology
|October 18, 2005
Summary
Kabuki make-up syndrome (KMS) is a rare genetic disorder. A recent case highlights a rare co-occurrence of KMS with cutis laxa, expanding the known clinical spectrum of this syndrome.
Area of Science:
- Genetics
- Pediatrics
- Dermatology
Background:
- Kabuki make-up syndrome (KMS) is a rare genetic disorder characterized by multiple congenital anomalies and developmental delay.
- KMS presents with distinctive facial features, skeletal abnormalities, and intellectual disability.
- The etiology of KMS is largely unknown, with sporadic cases being most common.
Observation:
- A case of Kabuki make-up syndrome (KMS) in an Italian boy is presented.
- This patient exhibited typical KMS features along with cutis laxa.
- Cutis laxa is an uncommon comorbidity in KMS, with no prior reports in over 350 documented cases.
Findings:
- The co-occurrence of KMS and cutis laxa in this patient is a novel observation.
- This finding suggests a potential, albeit rare, association between these two conditions.
- The genetic basis of KMS remains elusive, and this case adds complexity to its phenotypic spectrum.
Implications:
- This case expands the known clinical variability of Kabuki make-up syndrome.
- Further research may elucidate potential shared genetic or developmental pathways between KMS and cutis laxa.
- Understanding rare KMS comorbidities is crucial for comprehensive diagnosis and management.