Affected males develop generalized reticular hyperpigmentation in early childhood. Hair often looks bedraggled or brushed backward, hanging low on the forehead. Under<unk> LPDR conditions, autoimmune manifestations are developed due to chronically activated anti-viral type I interferon response, connecting<unk> LPDR with<unk> s like Aicardi-Goutiere syndrome, Systemic Lupus Erythematosus, Psoriasis, etc. 3 Meanwhile, another typical symptom - immunodeficiency - can be developed due to discovering a functional defect in the cytolytic activity of NK cells. Starokadomskyy at al. discovered that POLA1 deficiency is associated with decreased direct cytotoxicity of NK cells due to disturbances in vesicular traffic. Meanwhile, antibody-dependent cell cytotoxicity (ADCC) remains unchanged in<unk> LPDR NK cells. The most common manifestations of<unk> LPDR: * Recurrent respiratory infections * Dyskeratosis corneal *Photophobia * Hypohidrosis (lack of sweat glands) * NK cell functional deficiency * Growth retardation * Gastrointestinal<unk> s * Kidney disease * Kidney stones * Urinary infections * Webbed feet or hands * Electrolyte imbalance * Retinitis pigmentosa * Lymphoedema * Thyroid abnormalities Not every patient shows all of the listed symptoms. However, skin pathologies, recurrent lung infection, high titer of interferon type I in the blood, and impaired direct cytotoxicity of NK cells are the most common symptoms. In females the disease is characterized by skin rashes linear hyper pigmentation following the Blaschko's lines, morphologically similar to stage 3 pigment incontinence. There are no systemic manifestations associated with<unk> LPDR in females. Most<unk> LPDR patients stabilize with age and have an overall less complicated clinical course after adolescence. Gastrointestinal and urinary tract complications are progressively less active, and the pace of infections tends to decrease. However, those who have severe lung damage remain prone to recurrent pneumonia and may succumb to severe infections. Hypohidrosis is irreversible and remains a problem for life.<unk> LPDR patients have normal fertility and the mutation has been transmitted to their female offspring.
X-linked reticulate pigmentary disorder
Pure hair-nail type ectodermal dysplasia
Oculocutaneous albinism
Linear atrophoderma of Moulin
Yemenite deaf-blind hypopigmentation syndrome
Spastic ataxia-corneal dystrophy syndrome
Oculocutaneous albinism type I
Aromatic L-amino acid decarboxylase deficiency