What are the other Names for this Condition? (Also known as/Synonyms)

• Alopecia Universalis Congenital, Mari type 
• LAH2 (Localized Autosomal Recessive Hypotrichosis 2)
• Localized Autosomal Recessive Hypotrichosis 2 (LAH2)

What is Total Hypotrichosis, Mari type? (Definition/Background Information)

• Total Hypotrichosis, Mari type, is an uncommon genetic disorder that is inherited in an autosomal recessive manner. The disorder was first reported among a certain ethnic population of Russia called the “Mari”
• The disorder is characterized by generalized hair abnormalities that includes the presence of thinly spread, short kinky hair (woolly hair) on the scalp and body, along-with an absence of eyelashes and eyebrows
• Currently, there are no well-defined treatment measures available for Total Hypotrichosis, Mari type; however, topical agents and oral medications may be used to promote hair growth. The outcomes are dependent upon the severity of the disorder but is generally favorable. However, the affected individuals may have emotional stress from cosmetic concerns

Who gets Total Hypotrichosis, Mari type? (Age and Sex Distribution)

• Total Hypotrichosis, Mari type is a rare congenital disorder, first described in the aboriginal Mari population in Russia (the ethnic population is over half a million strong)
• Both males and females may be affected
• Individuals of all racial and ethnic groups may be affected. Several cases have been reported from Estonians of Chuvash descent, and a few isolated cases from Pakistan and Japan

What are the Risk Factors for Total Hypotrichosis, Mari type? (Predisposing Factors)

• A positive family history may be an important risk factor, since Total Hypotrichosis, Mari type can be inherited
• Children of consanguineous parents are at an increased risk for developing the condition

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Total Hypotrichosis, Mari type? (Etiology)

• Total Hypotrichosis, Mari type is caused by mutation(s) in LIPH (Lipase H) gene, which localizes to chromosome 3
• The condition is inherited in an autosomal recessive manner

Compound heterozygous LIPH gene mutations: In some cases, each asymptomatic parent may carry a single copy of LIPH gene mutation at different loci. In their children, the two different mutations of LIPH gene may co-exist and lead to a manifestation of signs and symptoms.

Autosomal recessive mode of inheritance: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Total Hypotrichosis, Mari type?

The signs and symptoms of Total Hypotrichosis, Mari type may include:

• Presence of woolly hair that is short, brittle, and kinky, on the scalp and body
• Thin and sparse body hair (hypotrichosis, meaning little-to-no hair growth)
• Sparse to absent pubic hair 
• Sparse to absent underarm hair (axillary hair)
• Reduced pigmentation in hair shafts
• Sparse eyebrows and eyelashes
• Generally, the nails and teeth are not affected

How is Total Hypotrichosis, Mari type Diagnosed?

Total Hypotrichosis, Mari type is diagnosed on the basis of the following information:

• Complete physical examination with evaluation of family medical history, including skin examination by a dermatologist
• Electron microscopy examination of hair shafts
• Trichogram to determine the anagen/catagen ratio
• Dermoscopy: It is a diagnostic tool where a dermatologist examines the skin using a special magnified lens
• Wood’s lamp examination: In this procedure, the healthcare provider examines the skin using ultraviolet light. It is performed to examine the change in skin pigmentation
• Tissue biopsy, if required: A tissue biopsy is performed and sent to a laboratory for a pathological examination. The pathologist examines the biopsy under a microscope. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a definitive diagnosis
• Molecular genetic testing to check for or confirm specific causative gene mutation(s)
• Prenatal testing including abdominal ultrasound scans, as needed

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Total Hypotrichosis, Mari type?

The complications of Total Hypotrichosis, Mari type may include:

• Low self-esteem due to appearance
• Depression

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Total Hypotrichosis, Mari type Treated?

There is no cure for Total Hypotrichosis, Mari type since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complications that develops. This may include:

• Promoting hair growth through Minoxidil solution, topical steroids, and topical immunotherapy, as prescribed by a healthcare expert
• Oral medications for hair growth
• Hair transplantation, if necessary
• For cosmetic reasons, hair removal may be attempted from undesirable areas through regular shaving of hair and waxing, if necessary

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

How can Total Hypotrichosis, Mari type be Prevented?

Currently, Total Hypotrichosis, Mari type may not be preventable since many of these disorders are diagnosed at or following the birth of the child.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

What is the Prognosis of Total Hypotrichosis, Mari type? (Outcomes/Resolutions)

• The prognosis of Total Hypotrichosis, Mari type, is dependent upon the severity of the signs and symptoms and associated complications, if any
• Some affected individuals have low self-esteem and depression; however, the condition is not life-threatening

Additional and Relevant Useful Information for Total Hypotrichosis, Mari type:

The following DoveMed website link is a useful resource for additional information:

https://www.dovemed.com/healthy-living/skin-disorders/