Median canaliform nail dystrophy in a 2-year-old boy: Case report and review of the literature.

Median canaliform nail dystrophy (MCD) is a rare nail abnormality with an unknown etiology. We report the case of MCD of both great toenails in a 2-year-old boy presenting with a fir tree nail pattern and longitudinal splits. MCD was treated with topical marigold therapy (Tagetes sp.). By 15 weeks, the proximal 50% of the MCD had normalized. The report highlights a potential new treatment of marigold therapy for MCD.

Local and Systemic Nail Plate Abnormalities: A Clinical Review.

Nail disorders are often difficult to recognize and diagnose because of the subtlety of their presentation and their shared overlapping features that are common to several conditions. Experientially, this is further complicated by the fact that specific training on diagnosis of nail pathologies varies substantially across most residency programs and for a majority of medical and surgical specialties. To distinguish these presentations from true, potentially deleterious nail disorders, clinicians should have familiarity with the most commonly occurring nail pathologies and their associations, and use a systematic approach when examining or evaluating alterations in the nails. In the present study, we review the most common clinical disorders affecting the nail apparatus.

Identification of clinically useful predictive genetic variants in pachyonychia congenita.

BACKGROUND: Pachyonychia congenita (PC) refers to a group of autosomal dominant disorders caused by mutations in five keratin genes (KRT16,KRT6A,KRT17,KRT6B or KRT6C). Current disease classification is based on the gene harbouring disease-causing variants. AIMS: We harnessed the International Pachyonychia Congenita Research Registry (IPCRR) containing both clinical and molecular data on patients with PC worldwide, to identify genetic variants predicting disease severity. METHODS: We ascertained 815 individuals harbouring keratin mutations registered in the IPCRR. We looked for statistically significant associations between genetic variants and clinical manifestations in a subgroup of patients carrying mutations found in at least 10% of the cohort. Data were analysed using χ2 and Kruskal-Wallis tests. RESULTS: We identified five mutations occurring in at least 10% of the patients registered in the IPCRR. The KRT16 p.L132P mutation was significantly associated with younger age of onset, presence of palmar keratoderma oral leucokeratosis and a higher number of involved nails. By contrast, the KRT16 p.N125S and p.R127C mutations resulted in a milder phenotype featuring a decreased number of involved nails and older age of onset. Patients carrying the p.N125S mutation were less likely to develop palmar keratoderma while p.R127C was associated with an older age of palmoplantar keratoderma onset. Moreover, the KRT17 p.L99P mutation resulted in an increased number of involved fingernails and patients demonstrating 20-nail dystrophy, while the opposite findings were observed with KRT17 p.N92S mutation. CONCLUSIONS: We have identified novel and clinically useful genetic predictive variants in the largest cohort of patients with PC described to date.

Simultaneous occurrence of idiopathic trachyonychia in dizygotic twins.

Trachyonychia (or twenty-nail dystrophy) is an uncommon chronic disorder manifesting as thin, flattened, brittle nails with excessive longitudinal ridging and loss of luster creating a "sandpaper-like" texture that most commonly presents spontaneously in childhood as an isolated phenomenon; however, it has been historically associated with numerous dermatoses. Rarely, trachyonychia has been reported to occur in families, suggesting a potential hereditary predisposition. We report trachyonychia occurring simultaneously in dizygotic twins, further supporting a possible underlying genetic basis of this idiopathic nail disorder.

Congenital malalignment of the great toenail: Conservative and definitive treatment.

Congenital malalignment of the great toenail, or ungual malalignment, is a rarely recognized disorder. It is characterized by lateral deviation of the longitudinal axis of the nail plate with respect to the distal phalanx, and if untreated, complications in the late teens and adulthood may arise. In this study, we have reviewed conservative and definitive treatments for this disorder.

Congenital onychodysplasia of the ring finger presenting as a bifid nail.

Congenital onychodysplasia, or Iso-Kikuchi syndrome, is classically defined as a congenital nail abnormality of one or both index fingers that is often associated with a bone abnormality in the affected finger. We report an unusual case of a 6-year-old girl who presented with an S-shaped, bifid nail of the left ring finger that had been present since birth. X-ray findings were used to confirm a diagnosis of congenital onychodysplasia of the ring finger.

Ectodermal dysplasia with congenital adermatoglyphia (Basan syndrome): Report of two cases presenting with extensive congenital milia.

Basan syndrome is a rare autosomal dominant genodermatosis, characterized by rapidly healing congenital acral bullae, congenital milia and adermatoglyphia (lack of finger and toeprints). This type of ectodermal dysplasia has been infrequently reported in the literature. A pathogenic mutation in the SMARCAD1 gene has been demonstrated to cause this rare disorder.

The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.

The spectrum of peroxisomal disorders is wide and comprises individuals that die in the first year of life, as well as people with sensorineural hearing loss, retinal dystrophy and amelogenesis imperfecta. In this article, we describe three patients; two diagnosed with Heimler syndrome and a third one with a mild-intermediate phenotype. We arrived at these diagnoses by conducting complete ophthalmic (National Eye Institute), auditory (National Institute of Deafness and Other Communication Disorders), and dental (National Institute of Dental and Craniofacial Research) evaluations, as well as laboratory and genetic testing. Retinal degeneration with macular cystic changes, amelogenesis imperfecta, and sensorineural hearing loss were features shared by the three patients. Patients A and C had pathogenic variants in PEX1 and Patient B, in PEX6. Besides analyzing these cases, we review the literature regarding mild peroxisomal disorders, their pathophysiology, genetics, differential diagnosis, diagnostic methods, and management. We suggest that peroxisomal disorders are considered in every child with sensorineural hearing loss and retinal degeneration. These patients should have a dental evaluation to rule out amelogenesis imperfecta as well as audiologic examination and laboratory testing including peroxisomal biomarkers and genetic testing. Appropriate diagnosis can lead to better genetic counseling and management of the associated comorbidities.

A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome.

Schinzel-Giedion syndrome (SGS; OMIM 269150) is an ultra-rare genetic disorder associated with a distinctive facial gestalt, congenital malformations, severe intellectual disability, and a progressive neurological course. The prognosis for SGS is poor, with survival beyond the first decade rare. Germline, de novo heterozygous variants in the SETBP1 gene cause SGS with the pathogenic variants associated with the SGS phenotype missense and confined to exon 4 of the gene, clustered in a four amino acid (12 bp) hotspot in the SKI homologous region of the SETBP1 protein. We report a patient with a de novo I871S variant within the SKI homologous region, which has been associated with the severe phenotype previously; but our patient has fewer features of SGS and a milder course. This is the first report of a forme-fruste phenotype in a patient with a pathogenic variant within the SGS hotspot on the SETBP1 gene and it highlights the importance of considering atypical clinical presentations in the context of severe ultra-rare genetic disorders.

Carpal tunnel syndrome and associated nail changes: Review and examples from the author's practice.

Carpal tunnel syndrome (CTS) is commonly seen by general practitioners and often presents with neurologic symptoms of nocturnal pain and paresthesia along the median nerve distribution. Approximately 20% of patients also present with cutaneous findings (ulcerations, blistering, sclerodactyly, nail dystrophy) characterizing a severe form called necrotic CTS. Necrotic CTS can also be associated with bone changes (acro-osteolysis). In the author's practice, combined nail and skin findings are not an uncommon presentation of CTS, although this form remains overlooked and underreported in the dermatological textbooks and studies. This manuscript aims to review the literature on CTS cases, with a specific focus on using associated nail findings as diagnostic clues. The literature review along with a few additional recent cases from the author's practice demonstrate that CTS is frequently accompanied by a variety of nail changes including koilonychia, longitudinal fissuring, Beau's lines, onychomadesis, melanonychia, nail thickening, hyperkeratosis, and ischemic ulcerations with paronychia. Furthermore, when these changes are limited to the second and third fingernails, they should prompt the diagnosis of CTS. Once suspected, diagnostic evaluation is not difficult and surgical management can resolve cutaneous findings and prevent irreversible changes such as acro-osteolysis.

A Review of Nail Dystrophies for the Practitioner.

GENERAL PURPOSE: To provide information about nail pathology from its clinical presentation, pathophysiologic origin, clinical diagnosis, diagnostic testing, and treatment. TARGET AUDIENCE: This continuing education activity is intended for physicians, physician assistants, NPs, and nurses with an interest in skin and wound care. LEARNING OBJECTIVES/OUTCOMES: After participating in this educational activity, the participant should be better able to:1. Review the etiology of and risk factors for the various types of nail pathology.2. Describe the clinical manifestations, diagnosis, and treatment of the various types of nail pathology. ABSTRACT: Nail pathology has a range of etiologies, from biomechanical trauma to systemic associations. Within this review, nail pathology is examined from a clinical presentation, pathophysiologic origin, clinical diagnosis, diagnostic testing, and treatment standpoint. Nail dystrophy reveals both systemic and exogenous pathology, reinforcing the value of assessing nails during the medical examination.

Nail pathology has a range of etiologies, from biomechanical trauma to systemic associations. Within this review, nail pathology is examined from a clinical presentation, pathophysiologic origin, clinical diagnosis, diagnostic testing, and treatment standpoint. Nail dystrophy reveals both systemic and exogenous pathology, reinforcing the value of assessing nails during the medical examination.

Bart syndrome associated with skeletal deformities: An uncommon case report.

Bart syndrome is a rare genetic disorder characterized by aplasia cutis congenita, epidermolysis bullosa (EB), and nail abnormalities. We reported an unusual case of Bart syndrome associated with skeletal abnormalities and bilateral clubfoot.

Improvements in lower-limb muscle strength and foot pressure distribution with foot care in frail elderly adults: a randomized controlled trial from Japan.

BACKGROUND: Abnormalities in the feet and toenails are common among the elderly and may increase the risk of falls. This study aimed to investigate the changes in toe-gap force, knee-gap force, foot pressure distribution, the ability to perform activities of daily living, subjects' feelings and behaviors, and physical function resulting from daily lifestyle modification and foot care. METHODS: The study participants included 74 elderly adults (mean age 80.3 ± 7.5 years) with foot problems who had been divided into three groups based on Japan's nursing care insurance system levels: certified ineligible for support, eligible for support, or eligible for long-term care. Additionally, a control group of 106 elderly adults in good health was recruited. The differences between the intervention and control groups was examined using the Student's t-test, and differences between the three intervention subgroups and the control group were examined using one-way analysis of variance. RESULTS: After intervention, abnormalities in the participants' feet and toenails improved. Significant increases in lower-limb muscle strength were observed, and foot pressure distribution had improved. The foot-care intervention significantly improved lower-limb muscle strength and decreased the risk of falling, even in elderly adults whose physical function had deteriorated. CONCLUSION: In frail elderly adults, care of the feet and toenails can improve lower-limb muscle strength and foot pressure distribution. In addition, the individuals' social participation increased, and their behavior improved. TRIAL REGISTRATION: University hospital Medical Information Network- Clinical Trials (UMIN-CTR) with the number: UMIN000034742 . Registration date: 11/01/2018.

Temple syndrome as a differential diagnosis to Prader-Willi syndrome: Identifying three new patients.

The two imprinting syndromes Temple syndrome (TS14) and Prader-Willi syndrome (PWS) share many features in infancy and childhood. TS14 is an important, yet often neglected, differential diagnosis to PWS. We wanted to assess the frequency of TS14 among patients tested for PWS. In all samples submitted to our lab for genetic PWS testing during 2014 and 2015, we consecutively conducted additional analyses for TS14. A total of 143 samples were included. The most frequent indications for testing were developmental delay, overweight, and hypotonia. For TS14 testing, we performed a methylation-sensitive MLPA-kit detecting deletions and methylation aberrations in chromosomal region 14q32. TS14 was confirmed in 3 out of 143 patients (2.1%). In comparison, PWS was also confirmed in three patients. Brief clinical descriptions of the TS14 patients are presented. Temple syndrome is presumably underdiagnosed, and should be considered when testing children for PWS.