Disease

Brief Summary

Nonsyndromic Congenital Nail Disorder 10 also known as “claw-shaped nails” is an autosomal recessive nail disorder that affects the fingernails and toenails. Affected people have exceptionally thick nails that can look claw-like and detach from the underlying nail bed. Also, part of the nail may be absent from some fingers and toes.

Source

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Frequency

It is a rare disorder which affects 14 individuals based on the published scientific literatures

Appearance of the nails of person with Nail disorder 10

Inheritance

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Brief Summary

History of Disease

Congenital nail abnormalities, which affect any of the epidermal appendages, are rare diseases most commonly associated with congenital ectodermal syndromes, involving skin, teeth, hair and nails. In 2011, Frojmark et al. identified FZD6 as the cause of NDNC10 in two major Pakistani families through a combination of genome wide homozygosity mapping and candidate gene sequencing. Several years later, a few case studies also identified mutations in the Frizzled 6 (FZD6) gene in families with abnormal nails consistent with IRND in 2016. Three families with IRND characteristics were recorded by Kasparis and his colleagues in whom FZD6 mutations were found, including one previously unreported mutation.

History of Disease

NAIL DISORDER

Pathogenesis

Achondroplasia is caused by a mutation in the FGF3 gene in chromosome 4 at 4p 16.3. This mutation causes a decreased production of fibroblast growth factor receptor 3 which is crucial in the conversion of cartilage into bone which is vital in the proper development of a person. This mutation is inherited in an autosomal dominant manner. More than 80 percent of people with achondroplasia have parents with normal characteristics and are born with achondroplasia due to a recent (de novo) gene modification (mutation).

Pathogenesis

Nonsyndromic congenital nail disorder 10 is caused by mutations in the FZD6 gene, which provides instructions for producing a protein called frizzled-6, are caused by nonsyndromic congenital nail disorder 10. This protein is found in many types of cells' outer membrane, where it is involved in transmitting chemical signals to the nucleus of the cell from outside the cell. In the growth and development of nails, especially the attachment of the nail to the nail bed, the frizzled-6 protein plays a particularly critical role. This disease is an autosomal recessive inheritance which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene.

Source

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Location on FZD6 gene on chromosome 8

Symptoms

onychauxis (thick nails)

onycholysis (detachment of nail from the nail bed)

hyponychium

cracked nails

discolored nails (at birth)

hyperplastic nails (at birth)

slow nail growth

claw-like appearance of fingernails

opalescent, dull nails (in adulthood)

Social Concerns

Most daily living tasks require some form of manual dexterity or walking and standing. A positive diagnosis of nail disease can be affected by these behaviors, as well as work and social activities. Even easy steps, such as wearing shoes and manicuring nails properly, can prove difficult. Well-maintained nails in general mean physical well-being, youth, and cleanliness; thus, mycotic infections can generate self-confidence problems. Perhaps more harrowing, though are the psychological consequences. The presence of onychomycosis-related anxiety and depression along with low body image and self-esteem was recorded in several studies, which in turn deteriorates one's sense of worth. In addition, affected individuals may be less likely to engage in social and leisure activities, promoting the already compromised mental condition.

Treatment

Onychauxis therapy falls into two major categories: pharmaceutical therapies and solutions for home remedies. For this disorder, there is no normal care. Instead, a plan of action based on probable cause and individual symptoms will be determined by doctors. It's important to remember that unless it becomes uncomfortable and interferes with your everyday routines, you don't have to manage this disorder. First of all, for medical procedures, treating underlying problems if a person has this problem of nail growth, the doctor may want to identify potential issues that could be causing it. In some cases, there isn’t an underlying issue, but if one can be found, it can be treated. Treatment means the thick growths and discoloration may stop. During the removal of the affected nail, the doctor may opt to remove a portion or all of the thickened nails in serious cases. This is a choice when the nail becomes so heavy that a person will feel serious discomfort and can no longer take care of it properly on their own. The next type of treatment is home remedy options. First is keep your nails trimmed and neat, trimming your nails can also lead to their good appearance. When nails rub against shoes and cause discomfort, it can also relieve some pain. A person should consult a doctor about any special equipment that they might need if nail clippers aren't thick enough to handle the job. A person can also seek a podiatrist, a doctor who specializes in the treatment of foot, ankle, and lower limb disorders and diseases. The last home remedy is to move more. Better circulation in the lower extremities by walking, riding a bicycle, or otherwise moving more is a great way to increase the blood, oxygen, and other nutrients in the nails and can help in nail growth.

Biochemical techniques (diagnoses and research)

A specialist will look at the medical history of a person and check their nails. If their thick nails are due to an underlying condition, the doctor may prescribe additional therapies to help address the new symptom. The doctor may need to swab under the nail or take a clipping to test for fungal growth for those with fungal infections. To quickly curtail a fungal infection, it is necessary to diagnose it early. Onychauxis may be handled in certain circumstances. This is particularly true when an underlying disorder, such as an illness or wound, is the product of abnormally thick nails. It may take time to grow nails slowly, but normal nail growth is likely to be recovered. If onychauxis is left untreated, a person may eventually experience complications such as curled toenails, thick nails that can not be trimmed, and pain. In this scenario, that person will have to be helped by a doctor to cut and maintain the nails so that it won’t interfere with the person’s everyday life.