"Knee-Ding" a Diagnosis: A Case of Nail Patella Syndrome.

Nail Patella Syndrome (NPS) is a rare genetic disorder with pathognomonic signs including dystrophic fingernails, iliac horns, and limb abnormalities, which commonly include hypoplastic development of the patellae, causing patients to experience patellar instability. This resulting patellar instability increases susceptibility to recurrent subluxations or dislocations in NPS patients. Since these anatomical abnormalities are present at birth or in childhood, early recognition may prevent the need for surgical intervention if appropriate preventive measures are taken. This case report describes a 54-year-old woman with a history of NPS, diagnosed later in adulthood, with a prior patellectomy at age 18 secondary to an unspecified left knee injury that occurred at age 4. A combination of radiographic and clinical findings are presented, which support the diagnosis of NPS, including dystrophic nails, left knee x-ray consistent with prior patellectomy, and right knee x-ray showing inferolateral subluxation of a hypoplastic patella. Additional signs associated with NPS are also discussed, including mood disorders, Raynaud's, and a high hairline which may assist in early diagnosis. This case report emphasizes earlier identification of NPS by clinicians through recognition of signs and symptoms while also considering proactive measures to lessen recurrent subluxations or dislocations to preserve patellar integrity and reduce the need for surgical intervention.

Iso-Kikuchi syndrome: report of two cases / 中华皮肤科杂志

To report 2 cases of Iso-Kikuchi syndrome, both of which were congenital. Case 1, a 7-month-old female infant, visited the hospital due to abnormalities in the nail plate of the left index finger for 7 months; case 2, a 3-year-old male child, also visited the hospital due to abnormalities in the nail plate of the left index finger for 3 years. The 2 patients both presented with 2 tiny, independent nail plates on both sides of the nail bed of the left index finger, instead of normal nail plates. Based on their clinical features, the 2 patients were diagnosed with Iso-Kikuchi syndrome (congenital onychodysplasia of the index finger). The mother of case 1 had a history of progesterone use to prevent miscarriage during pregnancy, the mothers of the two patients both suffered from hypothyroidism and continued to receive thyroid hormone replacement therapy during pregnancy, and the mother of case 2 had a history of gestational diabetes. It is still unclear whether these comorbidities and drugs are directly related to the occurrence of Iso-Kikuchi syndrome.

Further phenotypic features and two novel POC1A variants in a patient with SOFT syndrome: A case report.

Short stature, onychodysplasia, facial dysmorphism and hypotrichosis (SOFT) syndrome is a rare autosomal recessive disease caused by POC1 centriolar protein A (POC1A) pathogenic variants. However, knowledge of genotypic and phenotypic features of SOFT syndrome remain limited as few families have been examined; therefore, the clinical identification of SOFT syndrome remains a challenge. The aim of the present case report was to investigate the genetic cause of this syndrome in a patient with a short stature, unusual facial appearance, skeletal dysplasia and sparse body hair. Giemsa banding and exome sequencing were performed to investigate the genetic background of the family. Spiral computed tomography and magnetic resonance imaging were used for investigating further phenotypic features of the patient. Exome sequencing identified that POC1A had two compound heterozygous variants, namely c.850_851insG and c.593_605delGTGGGACGTGCAT, which, to the best of our knowledge, have not been reported elsewhere. Novel phenotypes were also identified as follows: i) Metaphyseal dysplasia was alleviated (and/or even disappeared) with age; ii) the density of the femoral neck was uneven and the hyperintensity signal of the metaphysis was stripe­like. Thus, the present case report expands the knowledge regarding phenotypic and genotypic features of SOFT syndrome.

Double little toenails: Report of 4 familial cases.

Double little toenails, or accessory nails of the fifth toe, are a rare and particular deformity distinct from other nail dysplasias. We describe 4 cases of female patients, including a 6-year-old girl, experiencing this bilateral condition after birth. The nail anomaly shows an autosomal-dominant type of transmission that affects only female individuals. The subjects examined were from a family without marriages between blood relatives and without neuroectodermal hereditary diseases. The 4 patients had no bone alterations of the terminal phalanges of the fifth toe or alterations of the joints of the toes or hair. One patient had nail deformity associated with epilepsy; another patient, associated with an infection of an accessory nail.

Electron Microscopic and Immunohistochemical Findings of the Epidermal Basement Membrane in Two Families with Nail-patella Syndrome.

Nail-patella syndrome is an autosomal dominant disorder characterized by nail dysplasia and skeletal anomaly. Some patients have been shown to have ultrastructural abnormalities of the glomerular basement membrane that result in nephrosis. However, little has been reported on the epidermal basement membrane in this condition. This paper reports 2 families with nail-patella syndrome. Direct sequencing analysis of LMX1B revealed that family 1 and family 2 were heterozygous for the mutations c.140-1G>C and c.326+1G>C, respectively. To evaluate the epidermal basement membrane zone, ultrastructural and immunohistochemical analyses were performed using skin specimens obtained from the dorsal thumb. Electron microscopy showed intact hemidesmosomes, lamina lucida, lamina densa, and anchoring fibrils. Immunofluorescence studies with antibodies against components of the epidermal basement membrane zone revealed a normal expression pattern among the components, including type IV collagen. These data suggest that nail dysplasia in patients with nail-patella syndrome is not caused by structural abnormalities of the epidermal basement membrane.

Congenital Onychodysplasia Involving the Left Second Toenail / 대한피부과학회지

No abstract available.

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.

A Case of Cutis Marmorata Telangiectatica Congenita with Onychodysplasia

Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital vascular disorder, and its pathophysiology is still unclear and most cases occur sporadically. Cutaneous lesions are observed at birth with a marbled bluish and deep-purple appearance. The associated anomaly is manifest as body asymmetry, macrocephaly, hydrocephalus, mental retardation, syndactyly and congenital glaucoma. We report our experience of CMTC1 in a female infant with the gestational age of 34 weeks and 6 days and birth weight of 2,300 g who was born by cesarean section with abnormal skin lesions. The cutaneous lesions covered most of the lower body and they faded as she continues to grow. She also had onychodysplasia in her left 2nd phalanges. In this case, close follow up by not only pediatricians but also ophthalmologist and neurologists to treat various forms of lesions involved, though the prognosis of CMTC is generally good.

Congenital Onychodysplasia of the Index Fingers with a Y-shaped Bifurcation of the Distal Phalanx / 대한피부과학회지

Congenital onychodysplasia of the index fingers (COIF, Iso and Kikuchi syndrome) is a congenital disorder characterized by various forms of nail dysplasias mainly-involving the index fingers. Its etiopathogenesis is still unknown, but ischemia of the palmar digital arteries has been suggested to play a role in this disorder. Although not specific to it, a Y-shaped bifurcation of the distal affected phalanx is a characteristic finding of this syndrome. In this review, we report a case of COIF who presented with bilateral micronychia with a Y-shaped bifurcation of the distal phalanx.

A Case of Congenital Onychodysplasia of the Index Fingers Associated with Dandy-Walker Variant / 대한피부과학회지

Congenital onychodysplasia of the index fingers (COIF) is a rare disorder characterized by various forms of nail dysplasia which are mainly limited to the index fingers. The aetiology of the disease is still a matter of debate. COIF is characterized by five criteria: congenital occurrence, unilateral or bilateral index finger involvement, variability of nail appearance, possible hereditary involvement, and frequently associated bone abnormalities. We report a case of COIF, which is associated with Dandy-Walker variant.

Two Cases of Congenital Onychodysplasia of the Index Fingers / 대한피부과학회지

Congenital onychodysplasia of the index fingers(COIF) is characterized by hypoplasia or dysplasia of the nails peculiarly restricted to the index fingers. The cause is unknown, but clinical study suggested that ischemia of the finger at a certain period of fetal life might play an important role in its pathogenesis. Major characteristics of this condition are anonychia, micronychia, and polyonychia restricted to the index fingers. We report two cases of COIF, one of which was presented with anonychia of the left index finger, micronychia of the right index finger, and ventricular septal defect of the heart in a 2-week-old male baby, and the other which was presented with polyonychia of the right index finger in a 1-month-old male baby.

A Case of Congenital Onychodysplasia of the Index Finger / 대한피부과학회지

Congenital onychodysplasia of the index fingers(COIF) is a rare condition of the nails, characterized by the following : (1) congenital occurrence, (2) unilateral or bilateral index finger involvement, (3) variability in nail appearance such as anonychia, micronychia, and polyonychia, (4) possible hereditary involvement, and (5) frequently associated bone anomalies. A 7-week-old male baby with an atrial septal defect presented with micronychia of the left index finger. Roentgenogram of both hands revealed a bone defect of the left 2nd distal phalanx. To our knowledge, distal phalangeal bone defect has not been previously described in this disease. We report a case of COIF with atrial septal defect.