SLC40A1 and CP single nucleotide polymorphisms in porphyria cutanea tarda patients of mixed ancestry.

Porphyria cutanea tarda (PCT) is a multifactorial disease; clinical expression depends on both genetic and acquired factors. Few studies have examined the connection between PCT and the regulation of iron metabolism genes other than the HFE gene. We selected five polymorphisms in the CYBRD1, CP, SLC40A1, and HAMP genes to determine whether these polymorphisms can act as genetic modulators in patients with sporadic PCT. None of the 29 patients carried the C282Y mutation. Genomic DNA from 29 PCT patients was isolated. Alleles were discriminated using the ABI StepOnePlus Real-Time PCR System using TaqMan Assays. The results were compared with 107 healthy individuals matched for genetic ancestry, gender, and age. European ancestry was prevalent among PCT patients (68.3%). The frequency of the TT genotype of rs13015236 in the SLC40A1 gene was higher in PCT patients (44.8%) than in controls (20.6%) (P < 0.02). The C allele was more frequent among healthy individuals (53.3%) compared with patients (34.5%) (P < 0.01). The rs17838832 G allele of the CP gene was more common among PCT patients (14.3%) compared with controls (4.9%) (P < 0.05). There was no statistically significant difference concerning the three remaining polymorphisms. Our data highlight a possible role for the rs17838832 single nucleotide polymorphisms in CP in causing PCT (higher frequency of the G variant in patients). Regarding the rs13015236 single nucleotide polymorphisms in SLC40A1, the presence of a C allele could protect against PCT.

Genetic ancestry of patients with porphyria cutanea tarda in a country with mixed races: a cross-sectional study (Rio de Janeiro - Brazil).

Porphyria cutanea tarda has a complex etiology with genetic factors not completely elucidated. The miscegenation of the Brazilian population has important implications in the predisposition to diseases. There are no studies concerning the genetic ancestry of patients with porphyria cutanea tarda from a mixed population. Thirty patients living in Rio de Janeiro with sporadic porphyria cutanea tarda were studied for the genetic ancestry through informative markers - INDELS. There was a significant predominance of European ancestry across the sample of patients with porphyria cutanea tarda (70.2%), and a small contribution of African and Amerindian ancestry, 20.1% and 10.9%, respectively.

Genetic ancestry of patients with porphyria cutanea tarda in a country with mixed races: a cross-sectional study (Rio de Janeiro - Brazil)

Abstract: Porphyria cutanea tarda has a complex etiology with genetic factors not completely elucidated. The miscegenation of the Brazilian population has important implications in the predisposition to diseases. There are no studies concerning the genetic ancestry of patients with porphyria cutanea tarda from a mixed population. Thirty patients living in Rio de Janeiro with sporadic porphyria cutanea tarda were studied for the genetic ancestry through informative markers - INDELS. There was a significant predominance of European ancestry across the sample of patients with porphyria cutanea tarda (70.2%), and a small contribution of African and Amerindian ancestry, 20.1% and 10.9%, respectively.

Onychomycosis due to Neoscytalidium treated with oral terbinafine, ciclopirox nail lacquer and nail abrasion: a pilot study of 25 patients.

BACKGROUND: Onychomycosis by Neoscytalidium constitutes chronic infection of the nails, and its frequency has increased in recent decades. Currently, no effective standard treatment exists and literature data remain scarce. This work aimed to conduct a pilot project of combined treatment for this infection. METHODS: Thirty patients were divided into three treatment groups: oral terbinafine plus ciclopirox nail lacquer twice a week; ciclopirox nail lacquer twice a week; and ciclopirox nail lacquer 5 days a week, all associated with nail abrasion when required, for 12 months, with 6 months posttreatment follow-up. Clinical and mycological criteria were used for evaluation. RESULTS: Twenty-five patients completed the study. Significant clinical lesion reduction in disease occurred in all three treatment groups: 21 patients (84%) entered the study with more than 50% of diseased nail plate, at the end of treatment, and at 6-month follow-up, 84 and 96%, respectively, presented less than 25% nail lesion. Negative microscopy was observed in 36% of the patients at the end of treatment and in 24% of the patients at 6-month follow-up. At treatment completion (12 months), culture was negative in 21 patients (84%) and in 18 (72%) at follow-up. It was not possible to establish any clinical or mycological statistical differences between groups (p > 0.05). Global medical evaluation upon treatment completion revealed that one patient (4%) presented complete cure, 8 (32%) presented partial cure, 16 (64%) presented therapeutic failure. At the end of follow-up period, 6 patients (24%) were considered to have recurrence/reinfection. CONCLUSIONS: The results obtained at the 6-month period of follow-up showed marked improvement (96% of clinical improvement and 72% of negative culture) of the patients treated for onychomycosis caused by Neoscytalidium in the three tested groups with no statistical differences between them. Multicentric studies with greater number of patients enrolled are necessary to confirm these results.

Rejuvenation of periorbital area: treatment with an injectable nonanimal non-crosslinked glycerol added hyaluronic acid preparation.

BACKGROUND: Therapeutic approaches to aging of the periorbital region are unique because of the delicacy of the anatomical structures and the possibility of adverse events. The synthesis of hyaluronic acid (HA) and other components responsible for skin hydration and elasticity diminish with age. OBJECTIVE: To evaluate the efficacy and safety of an injectable product containing non-crosslinked HA of nonanimal origin in association with glycerol to treat aging of the periorbital region. MATERIALS AND METHODS: A pilot study in which 20 women were administered three monthly superficial intradermal injections of non-crosslinked HA of nonanimal origin containing glycerol in the periorbital area. The clinical results consisted of the evaluation of three researchers and an independent evaluator and the degree of posttreatment patient satisfaction. RESULTS: An improvement of between 25% and 50% in skin brightness, texture, and turgor was observed in the periorbital area. Papules were present after each application, and hematoma was the longest lasting effect. All adverse events were reversible and well tolerated. CONCLUSION: Injections of HA of nonanimal origin, in association with glycerol, using a micropuncture technique are well tolerated and can improve skin brightness and turgor and reduce roughness in the periorbital region.

Do you know this syndrome?

Bloch-Sulzberger syndrome (incontinentia pigmenti) is a rare genodermatosis that affects predominantly females, since it is generally lethal to male fetuses in utero. It is characterized principally by skin lesions, but may also involve dental, ophthalmological and neurological abnormalities. The skin lesions are present in four different phases: vesicular, verrucous, hyperpigmented and atrophic/hypopigmented. Their sequence is irregular and overlapping of stages is common.

Você conhece esta síndrome? / Do you know this syndrome?

A Síndrome de Bloch-Sulzberger (Incontinência Pigmentar) é uma genodermatose rara, que afeta, principalmente, o sexo feminino, pois costuma ser letal em pacientes do sexo masculino intraútero. Caracteriza-se, principalmente, pelas manifestações dermatológicas, podendo também apresentar anomalias dentárias, oftalmológicas e neurológicas. As lesões cutâneas apresentam 4 fases distintas: vesiculosa, verrucosa, pigmentar e atrófica; que podem seguir uma sequência irregular, havendo até sobreposição das mesmas.

Bloch-Sulzberger syndrome (incontinentia pigmenti) is a rare genodermatosis that affects predominantly females, since it is generally lethal to male fetuses in utero. It is characterized principally by skin lesions, but may also involve dental, ophthalmological and neurological abnormalities. The skin lesions are present in four different phases: vesicular, verrucous, hyperpigmented and atrophic/hypopigmented. Their sequence is irregular and overlapping of stages is common.

Case for diagnosis: (Ectodermal dysplasia: Christ-Siemens-Touraine syndrome).

Christ-Siemens-Touraine syndrome (hypohidrotic ectodermal dysplasia) is a rare syndrome characterized by the triad of absent or reduced sweating, hypotrichosis, and defective dentition. The prominent forehead, saddle nose, thick lower lip and pointy chin produce a distinctive facies. The full syndrome only occurs in men as it is an X-linked recessive condition.

Caso para diagnóstico / Case for diagnosis

A síndrome de Christ-Siemens-Touraine (displasia ectodérmica hipoidrótica) é uma síndrome rara, caracterizada pela tríade de sudorese reduzida ou ausente, hipotricose e dentição defeituosa. Bossas frontais proeminentes, nariz em sela, lábio inferior espesso e queixo pontudo fazem com que os pacientes tenham uma fácies característica e semelhante. A síndrome completa ocorre em homens, visto tratar-se de herança recessiva ligada ao X.

Christ-Siemens-Touraine syndrome (hypohidrotic ectodermal dysplasia) is a rare syndrome characterized by the triad of absent or reduced sweating, hypotrichosis, and defective dentition. The prominent forehead, saddle nose, thick lower lip and pointy chin produce a distinctive facies. The full syndrome only occurs in men as it is an X-linked recessive condition.