Argyria is a rare condition that causes the skin to turn blue or grey. This discolouration happens when the body comes into contact with excessive amounts of silver.There is no defined treatment for this disease. It can be treated by the restriction of the underlying cause.This could be the use of colloidal silver therapy, hydroquinone usage for skin conditions, silver dental fillings etc.When the  Read More

Dyskeratosis congenita is a rare genetic form of bone marrow failure, the inability of the marrow to produce sufficient blood cells. Dyskeratosis is Latin and means the irreversible degeneration of skin tissue, and congenita means inborn. First described in the medical literature in 1906, dyskeratosis congenita was originally thought to be a skin disease that also affects the nails and the mouth. Only later in the sixties was it realized that  Read More

A family history of the illness is the sole recognized risk factor for ectodermal dysplasia, rapp-hodgkin type (RHS). It is believed that RHS is an autosomal dominant characteristic. There have only been roughly 40 cases documented in academic journals, making it extremely uncommon.The TP73L gene, which generates various forms of the p73-like tumor protein, is thought to be the source of Rapp-Hodgkin syndrome (RHS)  Read More

Each of the nearly 100 EDs has its own set of clinical signs and symptoms. Commonly, the conditions will have one or more of the following associated findings: Teeth: reduced number, abnormal shape or size Hair: abnormal structure, sparse, slow-growing, often light-colored Sweat glands: often reduced number and abnormal structure, leading to decreased sweat production and risk of elevated body temperature (hy  Read More

Mutation in gene GL13 causes the disorders in the body from infancy collectively called Hall-Pallister Syndrome.It affects people with uneven development of many body parts of the body like extra fingers, toes, or skin between fingers.Diagnosis:The patient with HPS are infants, and the defects in their palms and toes are the prominent signs of diagnosing the disease. But to rule out the confusion  Read More

A genetic skin condition called hallopeau-siemens disease or dystrophic epidermolysis bullosa causes blisters to grow. One of the more severe types is the Hallopeau-Siemens syndrome type.Due to the defect's location in the dermis at the dermo-epidermal junction, even little skin trauma results in profuse blister production that always heals with scars.Anchoring fibrils are either absent or inadequate due t  Read More

Hay-wells syndrome, also termed Ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome, is a rare autosomal inherited disorder that occurs due to the changes in the TP63 gene.There is no cure for the syndrome. Certain treatment plans are implemented to manage the symptoms and prevent complications in the affected individuals. It includes,Antibiotics – People with this syndrome will b  Read More

There is no cure available for Keratosis follicularis spinulosa decalvans (KFSD).Treatments include:Applying skin-softening (emollient) ointments to soften and add moisture to the skin helps KFSD patients with their dry, itchy skin. This can be especially effective after bathing while the skin is still moist.Plain petroleum jelly and Lactate lotion is also said to be effective and is preferable  Read More

Haim-Munk syndrome is a rare genetic disorder characterized by the development of red, scaly thickened patches of skin on the palms of the hands and soles of the feet (palmoplantar hyperkeratosis), frequent pus-producing (pyogenic) skin infections, overgrowth (hypertrophy) of the fingernails and toenails (onychogryposis), and degeneration of the structures that surround and support the teeth (periodontosis). Periodontosis usually results in th  Read More

A chronic inflammatory disorder that affects the skin and mucosal membranes is Lichen Annularis.Inflammation (swelling and irritation) on the skin or within the mouth is a common symptom of lichen planus.Your skin develops an itchy rash as a result of Lichen Annularis.Your mouth may become painful or burn.An unidentified protein in the skin and mucosal keratinocytes is the target of infla  Read More

Nail changes are the most constant feature of NPS (98%). In most individuals with NPS, improper development (dysplasia) of the nails is apparent at birth or early infancy. While the thumbnails are almost always affected, the other fingernails may be more mildly affected or not at all. Typically the severity of the nail dysplasia decreases from the thumb toward the 5th digit. The nails may be abnormally small and narrow (i.e., one half to one t  Read More

Non-scarring epidermolysis bullosa is a disease that results from mutations in KRT5 or KRT14 gene. These genes provide instructions for making a protein called keratin 5 and 14. There are two major types, and seventeen minor subtypes for this disease, all of which have common effects and symptoms.Among these, the four major subtypes of EBS are here:EBS-loc- in this, blisters are rarely present at birth and ma  Read More

Rapp-Hodgkin syndrome is a rare disease that is caused by a defect in genes. It can cause problems to hair, nails, skin, teeth, and sweat glands. The child may inherit one faulty gene from each parent and resulting in this syndrome.The child with Rapp-Hodgkin syndrome may have opened in the upper lip, skin erosions, fused eyelids, growth problems, hair loss, and other problems associated with appearance. him99999 U  Read More

Rothmund-Thompson syndrome is a genetic condition inherited in an autosomal recessive manner.It has been discovered that two-thirds of people with RTS have RECQL4 gene mutation.This gene produces a protein involved in the replication and repair of DNA, the body's genetic material, whose holistic function is yet to be discovered.Since this gene does not show identifiable mutations in around one  Read More