Plantar keratoderma: a manifestation of tyrosinemia type II (Richner-Hanhart Syndrome)

Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation

“…Id 129, a cousin of an RHS patient with no molecular diagnosis, requested carrier status testing. Patients from 3 studies are not included in the table because of the absence of specific information…”

“…Founder effects are apparent in northern Italy (Lombardy and Tuscany, R57X), Tunisia (C151Y), Palestine (R417X, c.1124G>T) and Lebanon (R297X), and in Gran Canaria (P406L), with a population of Mediterranean ancestry, mainly from both continental Spain and northern Africa . Another region of special interest is Saudi Arabia, with several reports, one of them describing 4 cases from the same western tribe, although with no genetic analysis…”

“…14 This PEST region, as it occurs in the case of ornithine decarboxylase, 58 is not conserved in Trypanosoma TAT (see Figure 1), where the protein is expected to be more stable. Substitution of a highly conserved aspartic acid residue with asparagine seems to significantly alter TAT activity, as it leads to a mutant phe- Another region of special interest is Saudi Arabia, with several reports, 24,25,53,54 one of them describing 4 cases from the same western tribe, although with no genetic analysis. 53 In the case of Gran Canaria, the presence of 5 cases with the same mutation and belonging to apparently unrelated families, stresses the risk poised by recessive mutation carriers in isolated populations.…”

Familial Richner‐Hanhart syndrome: Report of a sibling with incomplete presentation

“…3 Cutaneous manifestations (85% of patients) can appear in the first week of life or maybe delayed until the second decade. 4,5 Lesions present as painful hyperkeratotic patches or plaques on the palms and soles. However, it may sometimes present as bullae and erosions in the early stage of disease.…”

“…Despite the role of corticosteroids in TAT induction, systemic corticosteroids were not useful for therapy. 2,4,7 Following the treatment regimen, oculocutaneous lesion improves after a few days or weeks. 7 Commence of dietary intervention in the early stage of disease may avoid cognitive abnormalities.…”