A novel mutation in LMX1B gene in a newborn with nail-patella syndrome: Clinical and dermoscopic findings.

We report on a 3-month-old female patient presenting with bilateral anonychia of the thumbnails and hyponychia of the index nails. Clinico-dermoscopic examination revealed triangular lunulae in all fingernails. Sequence analysis of LMX1B gene identified a novel heterozygous de novo mutation within exon 2, pathogenetic for a nail-patella syndrome.

[Lichenoid drug eruption with antituberculosis drugs associated with an anonychia]. / Toxidermie lichénoïde aux antituberculeux associée à une anonychie.

INTRODUCTION: Lichenoid cutaneous reactions to antituberculosis drugs are rare. Herein we report a new case. PATIENTS AND METHODS: A 41-year-old patient was seen for a profuse and pruriginous rash occurring 2 weeks after administration of rifampicin and isoniazid for pulmonary tuberculosis. Dermatological examination revealed polymorphic erythemato-squamous plaques with lichenoid, psoriatic and eczematous features, associated with cheilitis, erosions on the cheeks and diffuse onychodystrophy. The skin biopsy confirmed a lichenoid reaction. The pharmacovigilance investigation incriminated isoniazid and rifampicin. The patient was treated with topical corticosteroids and UVB phototherapy. The outcome involved complete regression of the eruption but with secondary anonychia. DISCUSSION: Antituberculosis drugs including isoniazid and rifampicin are known to induce lichenoid reactions. It is difficult to distinguish the results from lichen planus. The clinical polymorphism of the rash as well as the patient's drug intake militate in favour of a diagnosis of lichenoid reaction. Widespread ungual involvement, which is extremely rare, warranted early management in order to avert irreversible anonychia.

RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly.

Primary microcephaly is clinically variable and genetically heterogeneous. Four phenotypically distinct types of autosomal recessive microcephaly syndromes are due to different RBBP8 mutations. We report on a consanguineous Pakistani family with homozygous RBBP8 mutation c.1808_1809delTA (p.Ile603Lysfs*7) manifesting microcephaly and a distinct combination of skeletal, limb and ectodermal defects, mild intellectual disability, minor facial anomalies, anonychia, disproportionate short stature and brachydactyly, and additionally talipes in one patient.

Congenital anonychia and brachydactyly of the left foot - Cooks syndrome variant: Case report and review of literature.

Cooks syndrome is characterized by familial congenital anonychia or onychodystrophy, hypoplasia or absence of distal phalanges of the hands and feet with brachydactyly of the fifth finger and digitalization of the thumb (triphalangism). It is listed as a "rare disease" by the Office of Rare Diseases of the National Institutes of Health. Here, we report a case of congenital anonychia and brachydactyly of the left foot, which possibly is a variant of Cooks syndrome with a positive family history of similar deformity.

Description of the most severe signs in nail lichen planus: a strategy to contribute to the diagnosis of the severe stage.

BACKGROUND: Severe nail lichen planus (NLP) does not respond well to treatment and is often poorly considered and described in detail. OBJECTIVE: We sought to describe the characteristics of severe NLP. METHODS: A retrospective data analysis was performed, including the photographic records of the most compromised nails of patients with NLP over 18 years old, who consulted between 2009 and 2019 at the Instituto de Dermatologia Professor Rubem David Azulay in Rio de Janeiro, Brazil. Descriptive and statistical analysis using Fisher's exact test was performed to verify the hypothesis of independence between characteristics (P < 0.05). RESULTS: A total of 102 patients were included. Anonychia was associated with severe thinning of the nail plate, retraction of the nail bed or nail plate, residual nail plate, loss of proximal nail fold limits, and onychoatrophy. Dorsal pterygium was associated with loss of proximal nail fold limits, onychoatrophy, and distal splitting greater than 50%. CONCLUSION: We provide descriptions of the most severe signs in order to facilitate the clinical diagnosis when a biopsy is not feasible and suggest an update of current NLP classifications.

Congenital Nail Disorders among Children with Suspected Ectodermal Dysplasias.

We report on a cohort of 204 children referred between January 2017 and January 2022 to the German Center for Ectodermal Dysplasias, Erlangen. The most frequent reasons for referral were tooth malformations and lack of multiple teeth leading to the suspicion of an ectodermal dysplasia. Many patients also suffered from being unable to perspire. Nail abnormalities, in contrast, represented a much rarer finding, albeit the impact on some individuals was large. As ectodermal dysplasias are congenital genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives, including hair, teeth, nails, and certain glands, we analyzed congenital nail disorders detected in these patients. Dystrophic or otherwise abnormal nails were evident in 17 of 18 subjects with pathogenic WNT10A or GJB6 variants but in none of 161 children with EDA variants underlying X-linked hypohidrotic ectodermal dysplasia. However, 2 of 17 children who carry mutations in EDAR or EDARADD, two other genes involved in the ectodysplasin A signaling pathway, showed nail abnormalities, such as brittle or hypoplastic nails. TP63 variants were regularly associated with nail disorders. In one girl, anonychia congenita caused by a compound heterozygous variant of the R-spondin-4 gene (RSPO4) was diagnosed. Thus, nail dysplasia is rarer among patients with ectodermal dysplasia than commonly thought.

Pterygium Complicating Nail Psoriasis and Trachyonychia: Is It Rare?

Pterygium is an irreversible scarring of the nail matrix resulting in a split nail. The deformity is most often post-traumatic, though it can be the end result of aggressive inflammatory diseases involving the nail matrix like nail lichen planus, graft versus host disease, or autoimmune bullous disorders like cicatricial pemphigoid. It is thought to be a result of lymphocytic inflammation-mediated damage to the nail matrix, initiating a fibrotic process which slowly fuses the nail fold with the nail matrix and bed, destroying the nail plate. We report an interesting observation in a series of patients of various ages with nail and/or skin psoriasis, and trachyonychia associated with pterygium formation in multiple nails. Insidious progression to anonychia was also observed despite initiating adequate treatment. This report highlights the potential of irreversible nail damage occurring in reportedly benign nail conditions like psoriasis and trachyonychia, emphasizing the need for early recognition and aggressive management in such cases.

Review of Nail Lichen Planus: Epidemiology, Pathogenesis, Diagnosis, and Treatment.

Nail lichen planus is an inflammatory disorder of the nails with potential for significant cosmetic disfigurement and functional impairment. Nail manifestations may be isolated or appear concurrently with other forms of lichen planus. Longitudinal ridging is the most common clinical finding, but progressive disease may result in irreversible scarring (dorsal pterygium) or permanent nail loss (anonychia). Data on treatment are limited to retrospective studies and case reports. The mainstays of treatment are intralesional and intramuscular corticosteroid injections and oral retinoids. There is a need for randomized controlled trials on nail lichen planus to more rigorously assess efficacy and outcomes.

A 17q24.3 duplication identified in a large Chinese family with brachydactyly-anonychia.

BACKGROUND: Brachydactyly (BD) is a rare autosomal dominant inherited disease characterized by shortness of the fingers and/or toes, which has been classified into the subtypes A-E. However, the exact cause and mechanism of BD remain to be illuminated. Here, we aim to reveal the clinical and genetic characteristics of a subtype of BD, brachydactyly-anonychia. METHODS: In this study, a large Chinese family with three members affected by brachydactyly-anonychia was investigated. Both whole-exome sequencing and microarray-based comparative genomic hybridization (CGH) were performed on this family and the results of copy number variation (CNV) were verified by quantitative real-time PCR (qPCR). RESULTS: All the affected individuals showed short fingers and toes as well as missing nails; and the absence of middle phalanges in figure II-V of the upper and lower extremities was observed by X-ray examination. A duplication involving in the region of 17q24.3 was detected by CGH. The results of qPCR also represented this duplication in 17q24.3 in all the patients. CONCLUSION: In summary, our findings suggest that 17q24.3 duplication is the genetic cause of brachydactyly-anonychia in this family, which support the prior report that brachydactyly-anonychia is associated with 17q24.3 duplication, and further indicates the pathogenic correlation between BD and CNVs.

Iso-Kikuchi Syndrome: Report of 3 Pediatric Cases. / Síndrome de Iso-Kikuchi: 3 casos en la edad pediátrica.

Iso-Kikuchi syndrome, or congenital onychodysplasia of the index finger, is an uncommon condition characterized by total anonychia or dysplasia of the nail of the index finger. It is occasionally accompanied by underlying bone abnormalities and is rarely associated with other conditions. Although various hypotheses have been put forward to explain the pathophysiology of the syndrome, its etiology remains unknown. We report the cases of 3 pediatric patients (2 boys and 1 girl) with nail changes and bone abnormalities consistent with Iso-Kikuchi syndrome. We highlight the importance of recognizing this entity early to avoid the need for additional tests and unnecessary treatment.

Anoniquia Congénita Asociada a Herencia Autosómica Dominante, Síndrome de Cooks

Resumen El síndrome de Cook fue descrito por primera vez por Cook y colaboradores en 1985. Este se caracteriza por una historia familiar de hipoplasia congénita de las uñas de las manos en los dígitos 1,2 y 3, ausencia de las uñas en los dígitos 4 y 5, braquidactilia del digito 5 de las manos y ausencia complete de las uñas de los pies. Además, puede existir una hipoplasia o ausencia de las falanges distales en los pies y las manos. La oficina de enfermedades raras del Instituto Nacional de Salud, considera este síndrome como una "enfermedad rara". Presentamos el caso de un recién nacido con anoniquia congénita en ambas manos y pies en el digito 2 asociado a hipoplasia ungueal en dígitos 1 y 3 respetando dígitos 4 y 5. La radiografía de los dedos no muestra anormalidades en las falanges. Este caso podría representar una variante del síndrome de Cook o una nueva enfermedad aun no descrita debido a la existencia de una historia familiar importante con similares deformidades en la madre, la abuela y la hermana.

Abstract Cooks syndrome, which was first reported by Cooks et al in 1985. It is characterized by family history of bilateral congenital nail hypoplasia of digits 1,2 and 3, with absence of nails in digits 4, 5, and brachydactyly of digit five of the hands and complete absence of all toenails. In addition, there is hypoplasia or absence of distal phalanges of the hands and feet. According to the Office of rare Diseases of the National Institutes of Health, this syndrome is considered as a "rare disease". We present a newborn child with a history of congenital anonychia in digit 2 in both hands and feet and nail hypoplasia in digits 1 and 3 sparing digits 4 and 5. Radiography of the fingers shows no abnormalities in the phalanges. This case could represent a variant of Cooks syndrome or a new disease not yet described because of the existence of an important family history with similar deformities in the mother, grandmother and sister.

Congenital isolated Iso-Kikuchi syndrome in a newborn.

Classic CO (also called Iso-Kikuchi syndrome) represents a benign, isolated condition associated with normal patient outcome. Nevertheless, clinical follow-up and/or further clinically-based tests are needed to exclude other nail diseases associated with multisystem pathology; complete family history is also important to determine sporadic or hereditary transmission of such condition.

Congenital Anonychia with Ectrodactyly of 5th Finger

PURPOSE: Despite a high frequency of acquired nail disease, congenital absence of the nail, also called as anonychia, is a rare anomaly. It may be seen as an isolated of phalangeal bone(ectrodactyly), nail-patella syndrome, birth trauma, impaired peripheral circulation, alopecia areata, and pemphigus, idiopathic atrophy of the nail, bullous drug eruptions, periodic shedding, lichen planus, Stenvens-Johnson syndrome and so forth. METHODS: We have experienced a rare case of 40-day-old neonate, suffering from intrauterine growth retardation, but without familial history, chromosomal anomalies or any other diseases. RESULTS: There was no nail on left 5th finger and distal phalangeal bone of same finger. So, We diagnosed as Congenital Anonychia with ectrodactyly of 5th Finger. CONCLUSION: We report this case as congenital anonychia of 5th finger which have developed from underlying distal phalangeal ectrodactyly. We also review other reported cased in the literatures.

Two Cases of Corn Associated with Congenital Aphalangia and Anonychia / 대한피부과학회지

Absent terminal phalanges are often associated with corresponding omission of the associated nail. Lack of phalanges may arise in isolation or may be associated with other skeletal or dental abnormalities. We report two cases of corn associated with congenital aphalangia and anonychia in a 3-year-old child and a 22-year-old woman.

Congenital Anonychia of the Toes with Absence of Underlying Phalangeal Bones

Congenital absence of nails usually occur as a rare isolated anomaly or combined with other ectodermal defects. This anomaly is regarded as an inherited disorder either dominantly or recessively but quite a few cases were reported as sporadically developed. The patient was a 2-month-old girl who had no nails on both her 2nd, 3rd toes but had rudimentary nails on her left big toe and both 4th toes at birth. We could not find any other congenital deformity, any family history of inherited diseases related to anonychia. Radiological findings revealed no visualization of both 4th distal phalanges, only. We report this case as congenital anonychia of a sporadic type which may have developed independently from an underlying bone abnormality. We also review other reported cases in the literature.