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SUMMARY
Congenital nail diseases can be the result of one or more genetic, infectious, nutritional, environmental, or unknown factor.
Some congenital nail diseases could be prevented.
Not every inherited nail disorder belongs to a syndrome.
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TIPS FOR DIAGNOSIS
Don’t limit a consultation to the nails because nails are often the clue or the first sign for a hidden condition.
Understanding the embryological defect is mandatory to avoid including any secondary nail change in the primary disorder.
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TIPS FOR TREATMENT
Evaluate the feasibility of a medical/surgical treatment.
Consider podiatric care as a support medical/surgical treatment.
If medical/surgical treatment is not feasible, provide in any case an appropriate nail care to patients and their caregivers.
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DON’T FORGET
Nail signs due to inherited conditions may be present at birth or may develop later in life.
Multiple genes and different patterns of inheritance can be involved in a single condition.
Always check the parents/family.
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PITFALLS AND CAUTIONS
When facing anonychia, consider inherited conditions but also in uterus DNA damage from drugs/alcohol.
Malalignment is a predisposing factor for many nail disorders.
Differential diagnosis between incontinentia pigmenti and TND/psoriasis may be challenging.
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EXPERT PEARLS
Making a diagnosis in children is often difficult.
Avoid painful procedures if possible.
Don’t be afraid of prescribing systemic drugs when necessary.
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PATIENT EDUCATION POINTS
Podiatric care is sometimes necessary to support other treatments.
Consider wearing appropriate shoes.
Avoid biting, picking, sucking, polish, and all exogenous agents that can worsen the nail condition.
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Congenital nail diseases can be the result of one or more genetic, infectious, nutritional, environmental, or unknown factors. They are better defined as inherited when the genetic mode is the only way of transmission: they can be transmitted following an autosomic dominant (AD) pattern, an autosomic recessive (AR) pattern, or an X-linked pattern, dominant or recessive (XD and XR).1,2 When other factors are involved, some of them could be prevented, as nail abnormalities due to alcohol or drug abuse during pregnancy.
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Nail signs may be present at birth or may develop later in life. It is very important not to miss them, especially when they present as an isolated finding, not associated with changes in other organs (usually skin, hair, teeth, bones, brain). Nail abnormalities can be, in fact, the only sign of a disease and sometimes they can be the earliest sign by which a condition may be identified. Understanding the embryological defect is, then, mandatory to avoid including any secondary nail change in the primary disorder and to anticipate possible complications. Before evaluating any nail disorder, it is then mandatory to know the anatomy and physiology of the nail apparatus in order to differentiate pathology from physiology.3
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Diseases Affecting the Nails Only
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