Natural history of a fibrous cephalic plaque and sustained eight decade follow-up in an 80 year old with tuberous sclerosis complex type 2.

INTRODUCTION: Fibrous cephalic plaques (FCP) are a characteristic manifestation of tuberous sclerosis complex (TSC) and occur in one third of cases. Their natural history and long term course is unknown, as is the outcome of long term follow-up of TSC cases in old age. PHENOTYPE AND METHODS: We describe an 80 year old with TSC due to a c.2784dupC TSC2 mutation, who was diagnosed in infancy with an FCP and was regularly followed up at the TSC clinic over 8 decades with regular epilepsy treatment and renal monitoring. RESULTS: Regular clinical photography and clinical records document the plaque at different ages. The FCP naturally resolved at 74 years. Facial angiofibromas also faded with time in the last decade. His epilepsy and renal abnormalities remained under control with careful surveillance and monitoring. DISCUSSION: Natural aging in the eighth decade causes progressive laxity of collagen and leads to natural resolution of FCPs. This novel finding with a unique 80 year follow up yields valuable insights into the aging changes within FCPs and facial angiofibromas as the pathways linking facial angiofibromas and FCP's through the TGF-ß1 pathway are now being elucidated. CONCLUSION: We present a clinical odyssey showing the natural progression and history of FCPs in TSC and comment on the mechanistic pathways allowing potential interventions in this disfiguring condition. TSC cases can be successfully managed and complications - particularly in the brain and kidney, can be avoided over an entire lifetime. This is encouraging for long term prospects for patients with TSC.

The prevalence of pica in tuberous sclerosis complex.

BACKGROUND: Pica and Tuberous sclerosis complex (TSC) are rare disorders. We carried out a population survey of pica in our TSC patient population. FINDINGS: Pica was identified in four percent of cases of TSC. It was associated with adult onset or persistence into adulthood, epilepsy, severe learning difficulties and anaemia. CONCLUSIONS: Pica in TSC is a rare disorder and a coherent history may be difficult to obtain from patients. The prevalence of pica is likely to be underdiagnosed. Pica is a recognised feature in adults with TSC and prompt recognition of this disorder should allow better management of patients with TSC.

An epidemiological, clinical and genetic survey of neurofibromatosis type 1 in children under sixteen years of age.

AIM: To identify all cases of Neurofibromatosis type 1 in Northern Ireland under 16 years of age, document age, modes of presentation and any complications that occurred. METHODS: All cases of Neurofibromatosis type 1 in children less than 16 years of age were identified from the records in the Department of Medical Genetics. From the records and by direct contact with the patient's parents the relevant clinical information was obtained. RESULTS: Seventy-five children aged sixteen years or less were identified (prevalence of 17.6 per 100,000 (1 in 5681) of the population under 16 years of age). 45 (57%) had an affected first degree relative and 32 (43%) had no family history. 54 (72%) had at least one complication, 18 (24%) had 2; 9 (12%) had 3 and 3 (4%) had 4 complications. The most common complication was learning difficulties, which was seen in 37 (49.3%) cases. 11 (14.7%) patients had a malignancy; of whom 5 (6.7%) had an optic glioma (2 identified after diagnosis) and 3 (4%) had a CNS malignancy. CONCLUSION: Children with NF1 should be seen yearly by a health professional or team until after puberty and have a thorough clinical examination. The minimum prevalence is 1 in 5681 (17.6 per 100,000). We suggest a checklist is used to review nine important features; height, weight, head circumference, examination of the skin, blood pressure, ophthalmology examination (includes visual fields), examination of the spine, and for early/late puberty and consider referral to educational psychology. Educational authorities should identify all individuals with NF1 as they are at high risk of developing learning difficulties.