LMS stands for Limb -mammary syndrome which is a disease that belongs to the category of ectodermal dysplasia. Limb-mammary syndrome is already present at birth in the affected person. The disease is known by the abbreviation LMS and occurs comparatively rarely. Limb-mammary syndrome is characterized by pronounced anatomical deformities in the feet and hands in connection with aplasia or hypoplasia of the nipples and mammary glands.
What is Limb Mammary Syndrome?
The physician van Bokhoven scientifically described the Limb Mammary Syndrome for the first time in 1999. Limb-mammary syndrome is extremely rare and belongs to the group of ectodermal dysplasias. Currently, no more than 50 cases of Limb Mammary Syndrome are known in medical research. See AbbreviationFinder for abbreviations related to LMS.
Limb Mammary Syndrome is characterized by a deformity of the feet and hands. In addition, the patients show hypoplasia or aplasia of the nipples and mammae. However, the Limb Mammary Syndrome is highly variable in individual cases. For example, people with a mild form of Limb Mammary Syndrome only show isolated athelia.
In principle, all possible defects of the extremities occur in the context of limb-mammary syndrome, namely duplications, deficiencies and fusion defects. The malformations occur in different combinations in people with Limb Mammary Syndrome. In addition, the left and right side of the body or the respective hands and feet are sometimes affected to different extents by the typical malformations.
Nail dysplasia, atresia of the lacrimal ducts, hypodontia, hypohidrosis, and cleft palate appear less frequently than the characteristic defects of the limbs in limb mammary syndrome. In principle, Limb Mammary Syndrome is not associated with any abnormalities in the hair or skin.
Limb mammary syndrome occurs with a prevalence of less than 1:1,000,000 in the population. Limb mammary syndrome is caused by genetic mutations. Limb mammary syndrome is also inherited in an autosomal dominant manner. The syndrome is triggered by gene mutations on a gene called TP63.
The corresponding gene locus is responsible for coding a transcription factor. Genetic mutations in the same gene are sometimes associated with other diseases, such as Hay-Wells syndrome, EEC syndrome and ADULT syndrome.
Symptoms, Ailments & Signs
Basically, the symptoms and anomalies of the limb mammary syndrome can differ significantly in individual cases. A wide spectrum from mild symptoms to severe anatomical defects is possible. Limb-mammary syndrome usually presents itself in infants or in infancy.
It is also typical that people suffering from Limb Mammary Syndrome do not have any nipples. Sometimes there are nipples, but they are very underdeveloped. Limb-mammary syndrome is also typically associated with deformities of the limbs, especially the hands and feet. For example, certain sections are missing or the patients suffer from cleft hands and feet.
Unlike many other diseases from the group of ectodermal dysplasia, the skin and hair are not affected by the disease. In rare cases, individuals with Limb Mammary Syndrome suffer from hypohidrosis, atresia of the lacrimal ducts, and cleft palate.
Diagnosis & course of disease
Limb-mammary syndrome is best diagnosed in a specialized medical center. The disease is not well known due to its rarity. As a rule, the first indications of Limb Mammary Syndrome are found in small children or even newborns, so that the disease is often diagnosed in childhood.
The patient and his parents provide information about the symptoms in the patient consultation. Due to the genetic causes of Limb Mammary Syndrome, a thorough family history is particularly relevant for the diagnosis. The clinical examination is carried out on the one hand by visual examination and on the other hand by means of genetic tests.
This enables a relatively reliable diagnosis of limb mammary syndrome. In addition, the doctor carries out a differential diagnosis, in particular excluding the ulna-mammary syndrome and the ADULT syndrome.
Limb-mammary syndrome patients suffer from significant limitations in their daily routine and in their lives. This leads to various anomalies and malformations, which can usually occur anywhere on the body and significantly reduce the quality of life of those affected. The symptoms appear at a very young age and can lead to developmental disorders, especially in children.
Not infrequently, the patients are then dependent on the help of other people in their everyday life and can no longer do certain things on their own. Relatives and parents also often suffer from psychological problems or depression due to the circumstances. Movement restrictions can also occur. The malformations on the hands lead to various restrictions in everyday life and at work.
As a rule, however, the intelligence of the patient is not affected by the limb mammary syndrome. Unfortunately, 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, as a rule, does not lead to any special complications. The life expectancy of the patient is usually not reduced by the disease.
When should you go to the doctor?
Malformations and other signs of a disease must always be clarified at an early stage. Parents who notice that their child is missing finger joints, for example, should inform the pediatrician. Changes in the nipple, cleft palate and hypohidrosis also indicate a serious condition such as limb mammary syndrome. Medical advice is required if the symptoms do not go away on their own or are so severe that the affected person’s quality of life is impaired.
Difficulty walking or gripping objects are typical warning signs that require medical diagnosis and treatment. It is best for the parents to consult with the pediatrician in the same week. He can diagnose the disease and prepare a therapy. In addition to the family doctor, an orthopaedist, dermatologist or ophthalmologist can be consulted, depending on which symptoms and complaints are occurring. The disease can cause psychological problems in the patient and their parents, who are usually exposed to constant stress, which must be addressed in therapy.
Treatment & Therapy
The limb-mammary syndrome is a genetic disease, so that a causal therapy is fundamentally excluded according to the current state of medical knowledge. However, research is working on developing methods to treat congenital diseases such as Limb Mammary Syndrome.
Currently it is only possible to treat the complaints and defects of the limb mammary syndrome symptomatically. The therapeutic measures used in individual cases are based on the individual symptoms and malformations. Corrections by means of surgical interventions are often used to alleviate deformities in the hands and feet.
In this way, patients are able to use their hands and feet more normally. At the same time, such surgical interventions change the visual appearance of the affected person for the better, so that the mental suffering caused by the deformities is also reduced.
In general, the prognosis for people with Limb Mammary Syndrome is relatively good. According to current knowledge, the Limb Mammary Syndrome has no influence on life expectancy, so that the people reach an average age. Early correction of the malformations of the limb mammary syndrome makes sense.
Outlook & Forecast
The prognosis of limb mammary syndrome is considered unfavorable. The cause of the disorder is a genetic disposition. For legal reasons, human genetics cannot be modified by scientists and researchers. For this reason, the attending physician’s efforts are focused on alleviating the symptoms that occur. A causal therapy is not possible due to the legal situation. In addition, the prognosis depends on the severity of the existing symptoms. Despite the gene mutation, these are individual and vary in intensity in each patient.
The optical abnormalities are corrected by surgical interventions. The aim 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 supported by physiotherapeutic measures in addition to corrective surgery. In these cases, those affected can do something to improve their health themselves if they use the exercises and advice from the therapy in their everyday lives. Due to the symptoms and the visual flaw, the patient often experiences emotional stress.
If the course of the disease is unfavorable, psychological sequelae develop. These have a negative effect on the overall condition of the person concerned and must be taken into account when making the diagnosis that they are often lengthy.
The limb-mammary syndrome as a congenital and genetically determined disease has so far eluded any preventive influence of medicine. Various research studies are looking at ways to prevent hereditary diseases such as Limb Mammary Syndrome. In principle, numerous malformations of the limb mammary syndrome can be corrected in childhood, so that the patients lead an almost normal life.
Limb-mammary syndrome causes most of those affected to suffer from various complications or complaints, all of which usually have a very negative effect on the patient’s quality of life and reduce it significantly. If the various malformations or malformations on the patient’s hands or feet cannot be corrected in childhood, the follow-up care focuses on how to deal with the disease properly. 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. Those affected should try to accept themselves and appear self-confident towards others. In this respect, there is no real follow-up treatment, but rather an effort strive for a good mindset. Limb-mammary syndrome cannot be completely cured, so that a general course of the disease cannot usually be given.
You can do that yourself
Limb mammary syndrome cannot be treated through self-help means. It is a hereditary disease that can only be treated symptomatically for this reason.
However, despite the Limb Mammary Syndrome, there is no reduction in life expectancy and no particular limitations in everyday life for the affected person if the malformations are corrected. Early diagnosis and treatment always have a positive effect on the further course of the disease. The individual malformations are corrected and removed in various surgical procedures. The sooner the corrections are made, the higher the chances of an ordinary life without restrictions.
If the parents or those affected still wish to have children, genetic counseling makes sense before this is pursued. This may prevent the syndrome from occurring in subsequent generations. Since the syndrome also leads to psychological problems in many cases, talking to people you trust, your own family or a therapist is very helpful. Children should always be informed about possible complications and successes of a treatment.