Nail hypoplasia is an underdevelopment of one or more finger or toe nails and occurs mainly in syndromes and embryopathies. Minor nail hypoplasia does not have to be of disease value and does not require therapy. Disruptive nail hypoplasia can be corrected with nail bed grafts.
What is nail hypoplasia?
Hypoplasias are malformations that can affect any tissue of the body. In medicine, a hypoplasia is an underdevelopment of the tissue. Complete nondevelopment is distinct from this and is called aplasia. Hypoplasias can affect the nails, for example. Nail hypoplasias are included in the group of malformations and are thus dysplasias. Underdevelopment of the nails occurs symptomatically as part of various malformation syndromes and is then present from birth. Nail hypoplasia may affect a single fingernail or toenail, or all of the patient’s nails, and usually manifests as abnormally small size. The terms onychohypoplasia, microonychia, and hypoonychia are used as synonyms for nail hypoplasia. Nail hypoplasia almost never occurs in the form of an acquired change in the nail apparatus. When the nail is damaged by chewing, there is no mention of hypoplasia.
Causes
In most cases, the cause of nail hypoplasia is genetics. Underdevelopment is often associated with malformation syndromes and, in this case, is associated with other dysplasias. Most commonly, nail hypoplasia occurs in the context of Huriez syndrome, osteoonychodysplasia, alcohol embryopathy, antiepileptic embryopathy, and Ellis-van Creveld syndrome. Coffin-Siris syndrome, the extremely rare DOOR syndrome, Maroteaux-Lamy syndrome, and oto-onycho-peroneal syndrome or Zimmermann-Laband syndrome are also associated with underdevelopment of the nails. The primary cause of the above syndromes is a genetic mutation, sometimes subject to heritability. In alcohol embryopathy and antiepileptic embryopathy, the situation is somewhat different. In these cases, external factors are the cause of underdevelopment. In the embryopathies, the unborn child is damaged by exposure of the mother to toxins during pregnancy. Acquired hypoplasia occurs at most in old age and is caused mainly by iron deficiency.
Diseases with this symptom
- Ellis van Creveld syndrome
- Alcohol embryopathy
- Osteoonychodysplasia
- Coffin-Siris syndrome
- Iron deficiency
- Fetal alcohol syndrome
- DOOR syndrome
- Maroteaux-Lamy syndrome
- Huriez syndrome
Diagnosis and course
Nail hypoplasia manifests itself in the form of small, unusually narrow nails. If severe, only remnants of the nails are present. Hypoplasia may be present on all nails, or only on individual nails. Often the consistency of the nails is also changed by the hypoplasia. The other symptoms and malformations associated with nail hypoplasia depend on the primary cause of underdevelopment. In the context of Huries syndrome, there are accompanying symptoms, for example, onset of diffuse scleratrophies in the area of the hands and feet, hyperkeratoses, sclerodactyly and dry skin or hypohidrosis. Osteoonychodysplasia affects the organs and bones in addition to the nails. Ellis van Creveld syndrome mainly affects the ribs and the heart. In addition, it is characterized by short stature. Short stature is also present in Coffin-Siris syndrome, which is additionally associated with reduced intelligence and general hypoplasia of the hands and feet. Accordingly, the accompanying symptoms of nail hypoplasia are variable. When nail hypoplasias affect all nails of a hand or foot, they typically decrease in size starting from the first finger or toe. A doctor can recognize nail hypoplasia at first glance. On the affected toes or fingers, the nail apparatus is clearly underdeveloped and in some cases does not sufficiently cover the nail bed. In most cases, the diagnosis is made immediately after birth, as the hypoplasia is congenital in almost all cases. Usually the diagnosis of nail hypoplasia is preceded by the diagnosis of a certain syndrome or both diagnoses overlap.Depending on the general appearance of the patient, the physician will develop an initial suspicion of one of the syndromes mentioned. The tentative diagnosis is confirmed by imaging techniques and, if necessary, molecular genetic analysis of DNA. The prognosis for patients with isolated hypoplasia of the nails is excellent. However, since underdevelopment of the nails occurs in isolation only in the rarest cases, this statement must be seen in relation. In the context of a syndrome, the prognosis depends primarily on the presence, severity, and treatability of any organ dysplasias. Extremely mild and asymptomatic hypoplasia of the nails has no disease value.
Complications
Nail hypoplasia, i.e. underdevelopment of nails on hands and feet, occurs mainly in the context of a genetic disease with the corresponding complications. Huriez syndrome forms an example in this regard. In addition to the atrophied nails, the affected person in this rare disease has a reduced sweat secretion (hypohidrosis). Thus, the patient has very dry skin and overheats quickly. Due to the dry skin, it is highly stressed and excessive keratinization of this occurs (hyperkeratosis). In addition, the risk of developing squamous cell carcinoma is increased in these patients. Alcohol consumption during pregnancy can also cause nail hypoplasia. Depending on when the alcohol was consumed during pregnancy, typical consequences for the infant occur. In the first trimester, there are mainly malformations of the internal organs, such as the heart or kidney. In addition, a reduced skull (microcephaly) and a reduced brain (microencephaly) can occur. It is not uncommon for the child to miscarry. The greatest risk of miscarriage occurs during the second trimester. Developmental disorders can also be observed here. The third and last trimester is characterized mainly by physical and mental development, so if alcohol is consumed, there may be severe mental developmental disorders, as well as growth disorders in the child.
When should you go to the doctor?
In the case of nail hypoplasia, treatment by the doctor is not necessary in every case. Usually, the affected person can decide for himself whether the symptoms of nail hypoplasia need to be treated or not. In many cases, the aesthetic discomfort can lead to depression or lowered self-esteem. In such a case, nail hypoplasia can be treated. If necessary, counseling by a psychologist is also necessary to prevent further inferiority complexes. Furthermore, an examination by the doctor is useful if the skin is very dry and there is reduced sweating. Likewise, nail hypoplasia may be associated with other complications, such as malformations of the heart or kidneys. In any case, such complaints must be examined and treated by a doctor. Growth disorders can also occur in children, and these must be monitored by a doctor. If the nail hypoplasia refers only to complaints of the nails and skin, a transplantation can solve these complaints relatively easily.
Treatment and therapy
Low-grade, asymptomatic nail hypoplasia does not require therapy. Because the nail changes usually occur as part of a syndrome, priority should be given to the other symptoms of the syndrome, even in cases of severe nail hypoplasia. This is especially true for the treatment of vital organs. If the nail bed is completely unusable, it may be possible to correct the dysplasia. In most cases, this correction takes the form of a nail bed transplant. The deformed nail bed is excised during this surgery. In most cases, the resulting hole is covered with a skin graft. Once the skin is fused, artificial nails can be inserted into the site. Since the focus of nail hypoplasia treatment is primarily on cosmetic improvement, this type of nail bed transplantation achieves sufficient success. Other people will thus hardly be able to make out the malformation anymore, if at all. The quality of life of those affected increases and psychological problems due to the cosmetic shortcoming are prevented.
Outlook and prognosis
In most cases, nail hypoplasia does not cause any particular complications or discomfort.If the symptom is minor, direct treatment is also not necessary. Patients suffer from the symptom mainly very small and narrow nails. There is a very dry skin and cracked nails. These can be treated with the help of cosmetic products or with nail transplantation. In many cases, however, not only the nails are affected. Most patients also suffer from malformations of the heart or a decrease in intelligence if the nail hypoplasia was caused by Ellis-van Creveld syndrome. If the malformations on the nails do not bother the patient further, no treatment is necessary. There is no pain or discomfort. However, an examination of the other organs should take place so that a serious syndrome can be excluded. If the nails are not visually appealing, a nail bed transplant can also be performed. In this case, there is no further discomfort as well. Especially in women, nail hypoplasia can lead to psychological discomfort and reduced self-esteem, since for them, on average, the optical appearance is more important than for men. Complications or a serious course usually only occur if nail hypoplasia is triggered by another syndrome.
Prevention
An expectant mother can at least prevent nail hypoplasia associated with alcohol embryopathy by remaining abstinent for the duration of pregnancy, thus protecting the unborn child from the harmful influence of alcohol. In the context of acquired nail hypoplasia, iron consumption is considered preventive.
What you can do yourself
In the case of nail hypoplasia, there are no known ways to help yourself so far. It is merely a symptom that sometimes occurs in certain congenital diseases and cannot be changed by self-measures. In the context of the underlying diseases, however, this symptom is usually not the main problem. The patient’s quality of life is severely limited mainly by other physical and sometimes mental disabilities of these diseases. In case of weak formation of nail hypoplasia, often no treatment is necessary anyway regarding this symptom. Even a conspicuous deformity does not cause complications, discomfort or pain, so that neither treatment nor self-medication would be necessary for health reasons. However, it may still happen that the patient suffers from inferiority complexes due to the nail hypoplasia and psychological problems arise as a result. However, this will only be the case if the deformities of the finger and toe nails appear as the main symptom. However, in these cases, since there is no possibility to treat them by oneself, a nail bed transplantation can be performed as a cosmetic operation. Through intensive psychological care, however, it is also possible that the quality of life of those affected can be improved even without a surgical intervention. However, because of the many other possible symptoms, patients with nail hypoplasia often require lifelong care and support.
