High-frequency ultrasonography index in evaluation of pincer nail.

BACKGROUND: The measurements of width index, height index, and curvature index were used for assessment of the curvature severity. Nevertheless, both sides of the nail root are buried subcutaneously, impossibility in measuring the width index correctly. MATERIALS AND METHODS: We developed a technique to measure the index under high-frequency ultrasonography (HF-USG). RESULTS: There was good agreement between the HF-USG index and the result examined after surgery. CONCLUSION: The observation on HF-USG helps to distinguish between ingrown nail and pincer nail. The HF-USG index will be useful in the examination and measurement of nail roots buried subcutaneously or nail penetration under the hypertrophic lateral nail fold, and comparing the effectiveness among treatments for pincer nail objectively.

Two siblings with Heimler syndrome caused by PEX1 variants: follow-up of ophthalmologic findings.

BACKGROUND: Heimler syndrome (OMIM number #234580 and #616617) is a rare condition comprising sensorineural hearing loss (SNHL), nail abnormalities and amelogenesis imperfecta. In addition, patients with this syndrome can have retinal dystrophies. Heimler syndrome is caused by bi-allelic pathogenic variants in the PEX1 or PEX6 gene. Only few patients with this syndrome have been reported. We hereby describe two siblings with genetically confirmed Heimler syndrome and provide imaging of the ocular phenotype. MATERIALS AND METHODS: The medical records of the siblings were reviewed retrospectively. RESULTS: Both brother and sister were diagnosed with SNHL and amelogenesis imperfecta of the permanent teeth; one of the affected siblings also had nail abnormalities. Both patients presented to the ophthalmology department with suboptimal visual acuity, fundus abnormalities and intraretinal cystoid spaces. Full-field electroretinogram revealed a cone-rod dysfunction. A genetic analysis revealed a homozygous likely pathogenic variant c.3077 T > C (p.Leu1026Pro) in the PEX1 gene in both siblings. The parents are heterozygous carriers of the variant. CONCLUSION: We recommend performing regular ophthalmic examination in patients with Heimler syndrome since the ophthalmic manifestations can manifest later in life. Our patients presented with cone-rod dystrophy and intraretinal cystoid spaces. Review of the literature shows that the ocular phenotype can be very variable in patients with Heimler syndrome.

Doble uña del quinto dedo del pie / Double Nail of the Fifth Toe

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Toenail abnormalities in rheumatoid arthritis patients are associated with radiographic damage and impact disability: a cross sectional study nested within a cohort.

OBJECTIVES: Cutaneous involvement is an extra-articular manifestation of rheumatoid arthritis (RA). This includes nail abnormalities, which are often overlooked. We described nail findings in RA patients currently attending an early arthritis cohort (n=145), and associated them with disease activity and/or damage, as well as patient-reported outcomes. METHODS: A standardised nail examination was performed in 122 patients (84.1% of the cohort), concomitant to the rheumatic assessment. Disability, quality of life and perceived nail-related health were also assessed. Nail findings and their location were recorded and classified according to standardised definitions. Logistic and linear regression models were used to investigate predictors of nail findings and to identify the impact of toenail findings on disability, which was evaluated with the HAQ. Patients consented to participate. RESULTS: Patients were primarily middle-aged females, with median follow-up of 9 years, and had disease under control. Most patients (62.3%) had at least one nail finding and these patients scored lower their nail-related health. The median (IQR) of findings/abnormalities per patient was 3 (2-5) and the number of nails affected per patient was 10 (2-12). Age (OR: 1.04, 95%CI: 1.007-1.074) and erosive disease (OR: 2.26, 95%CI: 1.1-5.1) were associated with nail findings. Toenail involvement was consistently associated with HAQ score out of normal range (OR=3.4, 95%CI=1.24-9.35, p=0.02). There was a linear association between the number of toenails affected and the HAQ score. CONCLUSIONS: Nail abnormalities are common and heterogeneous findings in RA patients; they are associated with erosive damage and impact disability.

Hand ultrasound patterns in rheumatoid and psoriatic arthritis: the role of ultrasound in the differential diagnosis.

Many rheumatic diseases may present with an inflammatory joint syndrome, affecting the small joints of the hands, of which rheumatoid (RA) and psoriatic arthritis (PsA) being one of the most common. The aim of this systematic review was to focus on the literature evidence regarding the added value of ultrasound (US) of the hand in the differential diagnosis between RA and PsA. Pubmed and Scopus were searched to identify original manuscripts, published in the last 20 years utilising ultrasonography to reveal specific hand US patterns. Studies were eligible if they: (1) included adults (over 18 years) with a diagnosis of RA/PsA; (2) were published in the English language; (3) were published in peer-reviewed journals; (4) included description of the US machine; (5) used US for assessment of hand joints, periarticular tissues and nails. The search yielded 322 published studies, of which 16 were deemed relevant and were included in the present study. Overall, there was heterogeneity with regard to the pathology examined. Based on the included studies analysis, hand US patterns have several basic features to be considered-location of gray scale (GS) inflammatory findings, involvement of periarticular soft tissue, distribution and extent of Doppler signal (intra- and peri-articular), bone reaction, shape and location of erosions, involvement of tendons without synovial sheath, involvement of enthesis and nail abnormalities. Future research could focus on determining the sensitivity and specificity of the different US detected hand patterns in patients with early arthritis.

Anonychia congenita in different generations of a single Saudi family.

Anonychia refers to the absence of nail plates owing to an autosomal dominant or recessive inheritance. Congenital anonychia is a rare condition that may be associated with other ectodermal or mesodermal malformations like epidermolysis bullosa, (deafness, onychodystrophy, osteodystrophy, and mental retardation) syndrome and Iso-Kikuchi syndrome. Here, we report 3 cases with anonychia congenita appearing in different generations of a single family in Kingdom of Saudi Arabia.

A comparative study of onychomycosis and traumatic toenail onychodystrophy dermoscopic patterns.

BACKGROUND: Onychomycosis (OM) and traumatic onychodystrophy (OD) are common causes of toenail changes. A clinical diagnosis is often impossible without mycology. Dermoscopy is helpful in this setting but yet underexplored. Prospective comparative studies between OM and OD onychoscopic findings have not been previously performed. OBJECTIVES: We sought to determine distinguishing dermoscopic presentations of OM and traumatic OD. METHODS: We performed a prospective, observational study including patients presenting with ≥1 toenail onychodystrophy. All underwent onychoscopy, clinical and mycological examination. Based on these results, patients received a final diagnosis of OM or OD. Dermoscopic presentations of OM and OD patients were classified in patterns and compared. RESULTS: In all, 110 cases of OM and 82 of traumatic OD were compared. Statistical analyses revealed that the distal pulverized and the irregular spiked macular dermoscopic patterns were predictors of an OM diagnosis. The regular macular, the non-classifiable, the total and partial homogeneous background dermoscopic patterns correlated with traumatic OD diagnosis. CONCLUSIONS: We demonstrated that OM and traumatic OD have distinctive onychoscopic presentations. Dermoscopy may be an important ancillary tool to guide their differential.

Onychoscopy of non-infectious nail abnormalities in patients after allogeneic haematopoietic stem cell transplantation.

Nail abnormalities after allogeneic haematopoietic stem cell transplantation procedure (alloHSCT) are often reported. Usually, they are related to chronic graft-versus-host disease (cGvHD). So far, only clinical manifestations of selected nail abnormalities have been described, without the presentation of dermoscopic images. In this article, we present morphologic and dermoscopic manifestations of potential non-infectious nail abnormalities in patients after alloHSCT procedure based on reviewed literature and our own experience with dermoscopic iconography. In majority of studies published till now, nail changes are not connected to severity of other cGvHD symptoms; however, e.g. the presence of pterygium inversum unguis may be an indicator of lung dysfunction. As nail changes may be an early sign of cGvHD and always present in association with other manifestations, routine clinical assessment should include nails examination. Knowledge of possible presentation of nail involvement after alloHSCT may be valuable for treating physician.

Schinzel-Giedion syndrome: a novel case, review and revised diagnostic criteria.

Schinzel-Giedion syndrome (SGS) is a rare autosomal dominant inheritance disorder. Heterozygous de novo mutations in the SETBP1 gene have been identified as the genetic cause of SGS. Here, we report a novel case with the syndrome with a novel insertion mutation in SETBP1. We also present a review of SGS cases, and first revise diagnostic criteria of SGS based on clinicalfindings and/or SETBP1 mutation worldwide. A revised diagnostic criteria and typing of SGS can be determined. Type I (complex and classic type) SGS patients present a development delay and typical facial features (prominent forehead, midface retraction, and short and upturned nose) associated with hydronephrosis or two of the characteristic skeletal anomalies (a sclerotic skull base, wideoccipital synchondrosis, increased cortical density or thickness, and broad ribs). Type II (middle type) patients show development delay and the distinctive facial phenotype (midface retraction, short and upturned nose), lacking both hydronephrosis and typical skeletal abnormalities, with existence of SETBP1mutation. Type III (simple type) patients with SETBP1 alteration show their major symptom is development delay, in which expressive language delay is the most striking feature. Central nervous system involvement with development delay in which expressive language delay is much more obviously affected is the most prominent feature of SGS. There is another indication that severity of phenotype of SGS may be inversely correlated with degree of SETBP1 alteration, besides gain-of-function or dominant-negative effects in SETBP1 alteration causing SGS.

[Tranverse acro-osteolysis: A rare cause of nail dystrophy]. / Acro-ostéolyse transversale : une cause rare d'onychopathie.

BACKGROUND: Acro-osteolysis (AO) involves partial or total destruction of the distal phalanges of the fingers or toes. The range of forms of AO is extremely wide. A distinction is generally made between the acquired forms and the genetic and idiopathic forms. Herein we report a case of idiopathic transverse single-finger AO associated with onychopathy. PATIENT AND METHODS: A 48-year-old woman consulted for a nail lesion involving brachyonychia in the right index finger alone (pseudo-clubbing appearance of the finger). The remainder of the clinical examination was normal, particularly in terms of neurological and dermatological investigations. Standard x-rays revealed transverse osteolysis of the middle third of the distal phalanx, occurring solely in the right index finger. DISCUSSION: While certainty regarding diagnosis of AO depends upon radiological findings, the radiological appearance is not specific. Two subgroups suggesting aetiological diagnosis may be distinguished: transverse AO with banding and longitudinal AO. With transverse AO, the diaphysis of the distal phalanx presents osteolysis with banding, but with sparing of the base of the band (pseudo-fracture appearance); this appearance is suggestive of toxic causes, congenital familial conditions or repetitive micro-trauma. Upon x-ray examination, the longitudinal forms exhibit concentric resorption of the band and these forms are more often seen in a setting of neurological, vascular or metabolic disorders. The associated nail involvement frequently present helps clarify the diagnosis, with nail plate shape being dependent on the integrity of the underlying bone. CONCLUSION: Herein we report the first case of transverse AO in a single finger associated with brachyonychia, and with no discernible cause.

Syndrome in Question.

The Iso-Kikuchi Syndrome is a rare condition characterized by nail dysplasia involving the index fingers, including micronychia, polyonychia, anonychia, irregular lunula, malalignment and hemionychogryphosis. On the antero-posterior image, radiologic examination reveals a narrowing of the distal phalanx. The lateral image shows a Y-shaped bifurcation of the distal phalanx. We report a case of a patient with typical clinical and radiologic signs of Iso-Kikuchi Syndrome.

Syndrome in question

Abstract The Iso-Kikuchi Syndrome is a rare condition characterized by nail dysplasia involving the index fingers, including micronychia, polyonychia, anonychia, irregular lunula, malalignment and hemionychogryphosis. On the antero-posterior image, radiologic examination reveals a narrowing of the distal phalanx. The lateral image shows a Y-shaped bifurcation of the distal phalanx. We report a case of a patient with typical clinical and radiologic signs of Iso-Kikuchi Syndrome.

Two cases of Temple-Baraitser syndrome: natural history and further delineation of the clinical and radiologic phenotypes.

This study reports on two individuals with Temple-Baraitser syndrome, manifesting typical hallux and pollex findings, global developmental delay, and seizures. In the five previous cases identified to date, consistent craniofacial and osseous characteristics have been observed. The children described herein exhibit minor differences within this phenotype and are older, highlighting the phenotypic variability and natural history of the clinical and radiographic findings.

Witkop tooth and nail syndrome: a report of three cases in a family.

Witkop tooth and nail syndrome is a rare autosomal dominant ectodermal dysplasia manifested by hypodontia and nail dysplasia. Tooth shape may vary, and conical and narrow crowns are common. Mandibular incisors, second molars, and maxillary canines are the most frequently missing teeth. Nail dysplasia affects the fingernails and especially the toenails and is often more severe in childhood. Nails may be spoon-shaped, ridged, slow-growing, and easily broken. We examined an Eastern Mediterranean family in which three siblings (two girls, one boy) had this syndrome. The severity of finger and toenail anomalies varied. The children's mother had no Witkop-related abnormalities, but their father was reported to have dental and nail anomalies. Early intervention is recommended to manage orofacial disfigurement and avoid negative social consequences for these children.