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Skin lesions in children with tuberous sclerosis complex: their prevalence, natural course, and diagnostic
S Jóźwiak1, R A Schwartz, C K Janniger
1Neurology, The Children's Memorial Health Institute, Warsaw, Poland. jozwiak@czd.waw.pl
Insights
Hypomelanotic macules are the most common early sign of tuberous sclerosis complex (TSC) in children. Early identification of these skin lesions aids in diagnosing TSC and associated conditions like seizures.
Area of Science:
- Dermatology
- Genetics
- Pediatrics
Background:
- Tuberous sclerosis complex (TSC) is an inherited disorder.
- It causes benign tumors (hamartomas) to grow in various organs.
- Cutaneous and visceral manifestations are characteristic of TSC.
Purpose of the Study:
- To determine the prevalence of skin lesions in children with TSC.
- To evaluate the diagnostic utility of National Tuberous Sclerosis Association skin criteria.
- To identify early cutaneous markers for TSC diagnosis.
Main Methods:
- A cohort of 106 children diagnosed with TSC was studied.
- Data was collected between 1984 and 1995.
- Skin examinations focused on identifying specific TSC-related lesions.
Main Results:
- Hypopigmented macules were present in 97.2% of children, often appearing at birth.
- Facial angiofibromas (74.5%) and shagreen patches (48.1%) were also common.
- Seizures occurred in 98% of children, with 75% presenting in the first year of life.
Conclusions:
- Hypopigmented macules are the most frequent and earliest observable sign of TSC.
- Infants with seizures or other TSC stigmata require thorough evaluation for hypopigmented macules.
- Early detection of cutaneous findings can facilitate timely TSC diagnosis and management.
Background:
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by widespread cutaneous and visceral hamartomas.
Methods:
The prevalence of cutaneous lesions in 106 children with TSC (47 boys and 59 girls) aged 1 month-18 years was evaluated from 1984 to 1995. Assessing the diagnostic usefulness of each National Tuberous Sclerosis Association skin criterion was an aim of this study.
Results:
Hypopigmented macules were the most frequent finding, seen in 103 of 106 children (97.2%). In 66 children they were evident at birth, and in 20 others their presentation was delayed until the first months of age. Facial angiofibromas were seen next most often (79 of 103, 74.5%), followed by a shagreen patch in 51 of 103 (48.1%), "cafe-au-lait" macules in 30 of 103 (28.3%), molluscum fibrosum pendulum (24 of 103, 22.6%), a forehead fibrous plaque (20 of 103, 18.9%), periungual fibromas (16 of 103, 15.1%) and "confetti-like" macules (3 of 103, 2.8%). The hypomelanotic macules were seen within the first 2 years of life in 95 children, as were café-au-lait spots in 24, facial angiofibromas in eight, shagreen patches in six, and forehead fibrous plaques in six, whereas molluscum pendulum and periungual fibromas were not evident. Seizures were seen in 102 of 106 children (98%), with 80 (75%) occurring during the first year of life.
Conclusions:
Hypomelanotic macules were the overwhelmingly most common early finding in TSC. Infants with seizures or other possible stigmata of TSC should be carefully evaluated for these hypomelanotic macules, as well as for other associated findings.