Table 2 Timeline
Year (age in years) | |
|---|---|
2000 | -First visit to Dermatology due to absence of hair growth -Excision of a pedunculated colorectal polyp: Nodular Lymphoid Hyperplasia of the gastrointestinal tract |
2002 (4) | -First visit to Ophthalmolgy: Maculopathy was suspected |
2003 (5) | -Maculopathy vs inverse retinitis pigmentosa -Skin biopsy. Suspicion of Keratosis Follicularis Spinulosa Decalvans (Siemens Syndrome) |
2005 (7)–2010 (12) | -Ophthalmological follow up |
2011 (13) | -Referral for Genetic testing (bloods and reprots): clinical suspicion ABCA4 –related maculopathy + Keratosis Follicularis Spinulosa Decalvans -Genetic tests: APEX (Arrayed Primer Extension) chip, sequencing and MLPS (multiplex ligation-dependent probe amplification) for ABCA4 gene: heterozygous for c.6148G > C, p.Val2050Leu. No second allele was found |
2012 (14) | -First visit to Clinical Genetics, diagnosis re-assessment: Hypotrichosis with Juvenile Macular Dystrophy |
2013 (15) | -Genetic Tests: CDH3 sequencing: c.830del; p.Gly277Alafs*20 (paternal) and c.613G > A; p.Val205Met (maternal) -2nd visit to Clinical Genetics, confirmed diagnosis: Hypotrichosis with Juvenile Macular Dystrophy due to CDH3 mutations |