Limb mammary syndrome is a condition that belongs to the category of ectodermal dysplasias. Limb mammary syndrome is already present at birth in affected individuals. The disease is known by the abbreviation LMS and occurs comparatively rarely. Limb mammary syndrome is typically characterized by marked anatomic malformations of the feet and hands in association with aplasia or hypoplasia of the nipples and mammary glands.
What is limb mammary syndrome?
Medical doctor van Bokhoven first described limb mammary syndrome scientifically in 1999. Limb mammary syndrome is enormously rare and belongs to the group of ectodermal dysplasias. At present, there are no more than 50 cases of limb mammary syndrome in medical research. Limb mammary syndrome is characterized by malformation of the feet and hands. In addition, patients present with hypoplasia or aplasia of the nipples as well as the mammae. However, limb mammary syndrome manifests in highly variable ways in individual cases. For example, people with a mild form of limb mammary syndrome show only isolated athelia. Basically, all possible defects of the extremities occur in limb mammary syndrome, namely duplications, deficiencies as well as fusion defects. The malformations occur in different connections in the individuals suffering from limb mammary syndrome. In addition, the left and right sides of the body or the respective hands and feet are sometimes affected to different degrees by the typical malformations. More rarely than the characteristic defects of the limbs, nail dysplasia, atresia of the lacrimal ducts, hypodontia, hypohidrosis, and cleft palate also appear in limb mammary syndrome. Generally, limb mammary syndrome is not associated with abnormalities of the hair or skin.
Causes
Limb mammary syndrome occurs with a prevalence of less than 1:1,000,000 in the population. The causes of limb mammary syndrome are found in genetic mutations. In addition, there is an autosomal dominant mode of inheritance of limb mammary syndrome. Triggers of the syndrome are gene mutations on a gene called TP63. The corresponding gene locus is responsible for coding a transcription factor. Genetic mutations on the same gene are sometimes associated with other disorders, such as Hay-Wells syndrome, EEC syndrome, and ADULT syndrome.
Symptoms, complaints, and signs
Basically, the symptoms and abnormalities of limb mammary syndrome may vary considerably in individual cases. Thus, a wide spectrum from mild symptoms to severe anatomic defects is possible. Limb mammary syndrome usually presents in infants or patients in early childhood. It is also typical that people suffering from limb mammary syndrome do not have any nipples. Sometimes nipples are present but severely underdeveloped. In addition, limb mammary syndrome is typically associated with deformities of the limbs, particularly the hands and feet. For example, certain sections are missing or patients suffer from split hands and feet. Unlike numerous other diseases from the group of ectodermal dysplasias, the skin and hair are not affected by the disease. In rare cases, individuals suffer from hypohidrosis, atresia of the lacrimal ducts, and cleft palate due to limb mammary syndrome.
Diagnosis and course of the disease
Diagnosis of limb mammary syndrome occurs at best in a specialized medical center. This is because the disease is rather little known due to its rarity. Usually, the first evidence of limb mammary syndrome is found in young children or even newborns, so diagnosis of the disease often occurs in infancy. The patient and his or her parents provide information about the symptoms during the patient interview. Due to the genetic causes of limb mammary syndrome, a thorough family history is particularly relevant for making the diagnosis. The clinical examination is performed on the one hand by visual examination and on the other hand by genetic tests. This allows a relatively reliable diagnosis of limb mammary syndrome. In addition, the physician carries out a differential diagnosis, primarily ruling out ulna-mammary syndrome as well as ADULT syndrome.
Complications
Due to limb mammary syndrome, patients suffer from significant limitations in their daily life and living. In the process, various anomalies and malformations occur, which can usually appear on the entire body and thereby significantly reduce the quality of life of those affected. The symptoms occur at a very young age and can lead to developmental disorders, especially in children. It is not uncommon for patients to become dependent on help from other people in their daily lives and to be unable to do certain things on their own. It is also not uncommon for relatives and parents to suffer from psychological complaints or depression as a result of the circumstances. Movement restrictions can also occur. The deformities of the hands lead to various restrictions in everyday life and at work. However, usually the intelligence of the patients is not affected by the limb mammary syndrome. Unfortunately, a causal treatment of limb mammary syndrome is not possible. However, the symptoms can be alleviated with the help of various therapies and surgical interventions. Physiotherapy measures are also necessary. The treatment itself does not usually lead to any particular complications. Also, the life expectancy of the patient is usually not limited by the disease.
When should one go to the doctor?
Malformations and other signs of a disease must be clarified early in any case. Parents who notice the absence of finger phalanges in their child, for example, should inform the pediatrician. Changes in the nipple as well as cleft palate and hypohidrosis also indicate a serious condition such as limb mammary syndrome. Medical advice is needed if the symptoms do not resolve on their own or are so severe that the affected person’s quality of life is limited. Difficulty walking or grasping objects are typical warning signs that require medical diagnosis and treatment. It is best for the parents to confer with the pediatrician during the same week. The pediatrician can diagnose the condition and prepare treatment. In addition to the family doctor, an orthopedist, dermatologist or ophthalmologist may be consulted, depending on the symptoms and complaints. The disease can cause psychological problems in the sufferers and their parents, who are usually exposed to constant stress, which must be worked through in the course of therapy.
Treatment and therapy
Limb mammary syndrome is a genetic disease, so a causal therapy is basically excluded according to the current state of medical knowledge. However, researchers are working to develop procedures to treat congenital diseases such as limb mammary syndrome. At present, it is only possible to treat the symptoms and defects of limb mammary syndrome symptomatically. The therapeutic measures used in individual cases depend on the individual symptoms and malformations. Corrective surgery is often used to alleviate the deformities of the hands and feet. In this way, patients are able to use their hands and feet more or less normally. At the same time, such surgical interventions change the visual appearance of the affected persons for the better, so that the psychological suffering caused by the deformities is also reduced. In principle, the prognosis for people with limb mammary syndrome is relatively favorable. According to current findings, limb mammary syndrome has no effect on life expectancy, so that people reach an average age. Early correction of limb mammary syndrome malformations is useful.
Outlook and prognosis
The prognosis of limb mammary syndrome is considered unfavorable. The cause of the disorder is a genetic disposition. Human genetics cannot be altered by scientists and researchers for legal reasons. For this reason, the efforts of the treating physician are focused on alleviating the symptoms that occur. A causal therapy is not possible due to the legal situation. Furthermore, the prognosis depends on the severity of the existing symptoms. Despite the gene mutation, these are individual and vary in intensity from patient to patient. The visual abnormalities are corrected by surgical intervention. The goal is to achieve an improvement in the quality of life, although no cure is possible.The impairments of the limbs must be assessed individually and can be additionally supported by physiotherapeutic measures in addition to a surgical correction intervention. In these cases, the affected person can contribute something to the improvement of his health himself if he uses the exercises and advice from the therapy in his everyday life. Due to the discomfort and the visual blemish, the patient often experiences emotional stress. In the case of an unfavorable course of the disease, psychological secondary disorders develop. These have a negative effect on the overall condition of the affected person and must be taken into account when making a diagnosis that they are often protracted.
Prevention
Limb mammary syndrome, as a congenital and genetic condition, has so far eluded preventive medical intervention. Various research studies are engaged in devising ways to prevent hereditary diseases such as limb mammary syndrome. In principle, numerous malformations of limb mammary syndrome can be corrected in childhood, allowing patients to lead approximately normal lives.
Follow-up
As a result of limb mammary syndrome, most affected individuals suffer from various complications or discomforts, all of which usually have a very negative impact on the patient’s quality of life and significantly reduce it. Unless the various deformities or malformations of the patient’s hands or feet could be corrected in childhood, follow-up care focuses on managing the condition well. The reduced aesthetics of the affected person can cause depression or other psychological upsets, which can be avoided with the help of appropriate sensitization of the social environment. Affected persons should try to accept themselves and appear self-confident to others. In this respect, there is no real aftercare treatment, but rather an effort to strive for a good mindset. In this regard, limb mammary syndrome cannot be completely cured, so a general course of the disease usually cannot be given.
What you can do yourself
Limb mammary syndrome cannot be treated by means of self-help. It is a hereditary condition, and for this reason can only be treated symptomatically. However, despite the limb mammary syndrome, life expectancy is not reduced and there are no particular limitations in the daily life of the affected person, if the malformations are corrected. Early diagnosis and treatment always has a positive effect on the further course of the disease. The individual malformations are corrected and removed in various surgical procedures. The earlier the corrections are made, the better the chances of a normal life without restrictions. If the parents or the affected person still wish to have a child, genetic counseling is advisable before this is pursued. In this way, the occurrence of the syndrome in further generations can possibly be avoided. Since in many cases the syndrome also leads to psychological complaints, discussions with familiar people, one’s own family or a therapist are very helpful here. Children should always be informed about possible complications and successes of treatment.
