Introduction
Dermatosparaxis is one of the disorders called Ehlers-Danlos syndrome or EDS. Ehlers-Danlos syndrome consists of a group of connective-tissue disorders. It is characterized by hypermobility of joints, saggy skin, extreme fragility, and soft skin. It is an inherited disease with autosomal recessive nature.
What Is EDS?
Dermatosparaxis is a sub-type of Ehlers-Danlos syndrome, referred to as dEDS. It is a genetic disorder with autosomal recessive type inheritance. A mutation in the gene ADAMTS-2 causes dermatosparaxis. It is a problem in collagen production. It is a rare condition that was first reported in animals.
What Causes Dermatosparaxis?
ADAMTS-2 is a gene responsible for producing the enzyme that cleaves the amino-terminal propeptide procollagen. This causes faulty collagen production. Ultramicroscopic studies show faulty collagen biosynthesis and fibrillogenesis. Insufficiently cleaved amino-terminal propeptide causes an incompletely processed type of procollagen precursor molecules, which eventually causes abnormal collagen molecules.
What Are the Symptoms of Dermatosparaxis?
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Dermartosparaxis means tearing off the skin. It is an extremely rare condition. It is characterized by extreme skin fragility, excessive bruising, and vascular fragility. EDS is a connective tissue disorder where the skin is saggy, joints hypermobile and generalized fragility of connective tissue. In the dermatosparaxis sub-type, large skin lacerations are found at birth or during the initial stages of life. Infections arise, and eventually, die. Lax skin, severe bruising, and dysmorphic face can help diagnose the disease.
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Males are more likely to be affected than females. The disease is observed at birth or is expressed by 62 months. In rare cases may be expressed in puberty or adulthood.
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Recognizable orofacial gestalt at birth: Blue sclera, periorbital swelling: swelling around the eyes, down-slanting palpebral fissures (area between two eyelids), epicanthic fold micrognathia, puffy and edematous eyelids, excessive periorbital skin
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Delayed closure of fontanel. Skull fuses after birth. Before this fusion, there were soft spots called fontanels. These should typically fuse as the child grows. In children with this disease, it fuses later than in normal children.
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Dental anomalies.
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Excessive skin folds at wrists and ankles.
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Subcutaneous bleeding due to increased susceptibility to bruising.
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Growth retardation after birth.
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Complications during birth, such as skull fractures.
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Complications due to connective tissue abnormalities such as diaphragmatic eventration and bladder rupture. Diaphragmatic eventration is the abnormal elevation of a portion of the diaphragm due to a lack of muscle or nerve function.
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Premature rupture of the fetal membrane followed by preterm birth is also a clinical feature of the condition.
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The umbilical cord may rupture.
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Multiple skull fractures after birth.
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Hemorrhage, shock, and eventually death may occur in some cases during birth.
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The dural tear can lead to cerebrospinal fluid collection and infection after that death.
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In some cases, the infants might need to be admitted to a neonatal intensive care unit to treat complications such as pneumothorax, respiratory distress, cerebral hemorrhage, hypoglycemia (decreased blood sugar level), and hypothyroidism.
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Ophthalmic manifestations include congenital myopia (short-sightedness at birth) or early onset myopia and, in some cases, astigmatism and, in severe cases, glaucoma at a young age. Glaucoma is increased pressure inside the eyes, which can cause eventual vision loss.
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Dental manifestations in some patients, dental problems have been reported, such as gingival hyperplasia (abnormal growth of gums), dental lamina cysts, microdontia (small teeth), missing teeth, tooth discoloration, abnormal morphology of molars, severe attrition of primary teeth enamel.
How Is Dermatosparaxis Inherited?
Dermatosparaxis is an autosomal recessive disorder. Recessive disorders are only inherited when both pairs of chromosomes are affected in an individual. If only one pair is affected, the individual will be a carrier. The patient must get an abnormal gene, one from the mother and one from the father, for the disease to be expressed.
How to Diagnose Dermatosparaxis?
Clinical manifestations are the first line of diagnosis; these include:
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Major criteria: Redundant skin, skin fragility, and saggy skin.
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Minor criteria include: Soft doughy skin, premature fetal membrane rupture, hernias- umbilical and inguinal, and easy bruising.
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However, clinical manifestations can vary. While some patients have the same clinical features mentioned above as skin fragility, osteogenesis imperfecta, and cutis laxa at birth, it is not observed in all patients at birth, and they may develop these features as they grow. This proves that there are milder forms of dermatosparaxis, and sometimes the disease can go undiagnosed.
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Confirmatory diagnosis depends on the study of the appearance of collagen fibrils. The collagen fibrils have the typical hieroglyphic appearance due to abnormal cleavage. Both in mild form and severe forms of the disease, this condition is seen. This helps to diagnose the disease, even in the absence of specific clinical manifestations.
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Physical examinations include a joint mobility test called the Beighton scoring system. The patient is asked to bend their joints, such as fingers, thumbs, knees, elbows, and spine. A score is obtained for each joint, and the combined score measures hypermobility.
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Molecular analysis of the gene ADAMTS-2 can also be done for the diagnosis of dermatosparaxis.
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Biochemical analysis is done to observe the collagen bands in the cells. In affected individuals, procollagen chains are absent. This indicates the deficient activity of ADAMTS-2.
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Skin biopsy: ultrastructural analysis of collagen fibrils is done using skin biopsy, which shows the characteristic formation of Ehlers-Danlos syndrome.
How Is Dermatosparaxis Treated?
There are currently no curative treatments for dermatosparaxis; the management is so as to relieve the symptoms. Physiotherapy is done in order to strengthen the muscles; it also helps to reduce joint dislocations. If a patient has a hernia, surgical correction may be needed.
Conclusion:
Dermatosparaxis is a type of a group of disorders called Ehlers-Danlos syndrome. It is a rare genetic condition that occurs due to the mutation of the ADAMTS-2 gene. It is an autosomal recessive disorder. The symptoms include reduced skin laxity, hernias, joint hypermobility, and easy bruising. Clinical examinations followed by biochemical tests can diagnose the disease. Management includes symptomatic treatment and physiotherapy to strengthen muscles and joints.
