Ophthalmic Manifestations of Heimler Syndrome in Two Siblings With PEX1 Variants.

PURPOSE: To report two new cases with confirmed diagnosis of Heimler syndrome and describe their systemic and ophthalmic phenotype and visual rehabilitation. METHODS: Retrospective review of medical records. RESULTS: Both siblings were diagnosed as having sensori-neural hearing loss and retinal dystrophy with exuberant intraretinal cystoid spaces and cone-rod dysfunction. The older sibling also had amelogenesis imperfecta and neither had nail abnormalities. Genetic analysis identified homozygosity for the pathogenic variant c.2528G>A p.(Gly843Asp) in the PEX1 gene in both siblings. The parents were heterozygous carriers of the variant. CONCLUSIONS: The authors report a familial case of Heimler syndrome due to biallelic PEX1 pathogenic variants that manifested as macular dystrophy characterized by cone-rod dysfunction and complicated by intraretinal cystoid spaces. Review of the literature shows that ocular phenotype is variable in patients with Heimler syndrome. [J Pediatr Ophthalmol Strabismus. 2024;61(1):59-66.].

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.

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.

Congenital curved nail of the fourth toe: Report of three cases and review of the literature.

Congenital curved nail of the fourth toe (CNFT) is a rare disorder in which the nail plate of the fourth toe is deformed as it curves toward the sole of the foot. The cause is still unknown, but the congenital deformity of the nail plate is thought to be due to shortening of the terminal phalanx and hypoplasia of soft tissue of the fourth toe. Here, we report three typical cases who presented congenital curving nail on both their fourth toes. Their X-ray showed that the distal phalanges of the fourth toes were short. Thus far, 19 cases of CNFT were reported in English literature. Interestingly, almost all cases have been from Asia (18 out of 19). The majority of the cases were bilateral and asymptomatic. Tenderness was seen in eight cases, which was caused by the pressure of the nail plate on the skin or ingrown nail. Treatment is basically unnecessary for the deformity, but it is important to teach safe and appropriate nail clipping methods to avoid pain. We can easily diagnose CNFT because of the characteristic clinical presentation and should provide appropriate advice on the nail care from early stage.

[A toddler with loose nails]. / Een peuter met loslatende nageltjes.

A father consulted his general practitioner with his 18-month-old son with several loose fingernails. We saw a toddler with nine fingernails that peeled off on the proximal side. The normal nails were visible under the loose nails. Diagnosis: onychomadesis.

Ungual seborrheic keratosis with longitudinal melanonychia: A case report.

In this paper, we report the case of a 71-year-old man with an 8-year history of melanonychia on the right little finger, who referred to our hospital because the color of pigmented area had gradually darkened and the width had expanded. Physical examination revealed longitudinal melanonychia with brown color (4 mm in width). Dermoscopic examination revealed multiple white round clods and splinter hemorrhages. No micro-Hutchinson sign was observed. We performed a punch biopsy (diameter 3 mm) of the nail matrix for diagnosis. Histopathological examination revealed irregular acanthosis of epithelium of the nail bed and distal matrix, which consisted of basaloid cells without nuclear atypia. Several zones exhibited cell whorls reminiscent of squamous eddies. The whorls were composed of large pink cells arranged in an onion peel-like fashion. The basaloid cells tested negative for human papillomavirus in situ hybridization and p16 staining. The morphology of white round clods (milia-like cysts in metaphoric term) observed in dermoscopic analysis corresponded to squamous eddies in histopathology. Considering these features, ungual seborrheic keratosis (SK) with longitudinal melanonychia was diagnosed, which is an atypical site for SK. We suggest that the dermoscopic finding of milia-like cysts may be useful for the diagnosis of ungual SK.

Leukonychia: What Can White Nails Tell Us?

Changes in nail color can provide important clues of underlying systemic and skin disease. In particular, white discoloration (leukonychia) has a high prevalence with a wide array of potential relevant causes, from simple manicure habits to life-threatening liver or kidney failure. Therefore, a reliable assessment of the patient with leukonychia is essential. In the past, two classifications for leukonychia have been presented. The morphological classifies the nail according to the distribution of the white lines: total, partial, transversal, and longitudinal leukonychia. Mees' and Muehrcke's lines are examples of transversal leukonychia, while Terry's and Lindsay's nails are examples of total and partial leukonychia. The anatomical classifies according to the structure responsible for the white color: the nail plate in true leukonychia, the nail bed in apparent leukonychia, and the surface only in pseudoleukonychia. In this review, both morphological and anatomical features have been combined in an algorithm that enables clinicians to approach leukonychia efficiently and effectively.

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 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.