PVA can be characterized by speckled, combined hyper- and hypopigmentation in the plaques or patches of affected skin. [5] Hyperpigmentation is excess coloration, or darkening of the skin, [8] while hypopigmentation is a diminished or pallid coloring to the skin.

Human African Trypanosomiasis (HAT), also called sleeping sickness, is a vector-borne parasitic disease caused by a protozoa of the Trypanosoma genus transmitted by the bite of a tsetse fly (genus Glossina ), that is found under its chronic form (average duration of 3 years) in western and central Africa (in case of the T. brucei gambiense sub-species), and under its acute form (lasting from few weeks to 6 months) in eastern and southern Africa (in case of the T. brucei rhodesiense sub-species). HAT comprises an initial hemo-lymphatic stage characterized by fever, weakness, musculoskeletal pain, anemia, and lymphadenopathy, along with dermatologic, cardiac and endocrine complications or hepatosplenomegaly, followed by a meningo-encephalitic stage characterized by neurologic involvement (sleep disturbances, psychiatric disorders, seizures) that progresses, in the absence of treatment, towards a fatal meningoencephalitis.

Hereditary cryohydrocytosis with normal stomatin is a rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.

Specialty Dermatology , Medical genetics Causes Family history; gene mutation; chromosome abnormality Genodermatosis is a hereditary skin disease with three inherited modes including single gene inheritance, multiple gene inheritance and chromosome inheritance. [1] There are many different types of genodermatosis, the prevalence of genodermatosis ranges from 1 per 6000 people to 1 per 500,000 people. [2] Genodermatosis has influence on the texture, color and structure of skin cuticle and connective tissue, specific lesion site and clinical manifestations on the body vary depending on the type. [3] In the spite of the variety and complexity of genodermatosis, there are still some common methods that can help people diagnose. [4] After diagnosis, different types of genodermatosis require different levels of therapy including interventions, nursing interventions and treatments. [5] Among that, research of therapy for some new, complex and rare types are still in the developing stage. [6] The impact of genodermatosis not only can be seen in body but also can be seen in all aspects of patients’ life, including but not limited to psychological, family life, economic conditions and social activities. [5] [7] Accordingly, the patients need treatment, support and help in these areas. [5] Contents 1 Hereditary Modes 1.1 Single gene (Monogenic) 1.1.1 Autosomal dominant inheritance 1.1.2 Autosomal recessive inheritance 1.1.3 X-linked dominant inheritance 1.1.4 X-linked recessive inheritance 1.2 Multiple gene (Polygenic) 1.3 Chromosome 2 Types 2.1 Common types 2.1.1 Ichthyosis 2.2 Rare types 2.2.1 Michelin tyre baby syndrome 2.2.2 Epidermolysis bullosa 2.2.3 Pachyonychia congenita 2.2.4 Epidermolytic palmoplantar keratoderma 2.2.5 Hereditary benign intraepithelial dyskeratosis 2.2.6 Epidermolytic hyperkeratosis 2.2.7 Hidrotic ectodermal dysplasia 3 Diagnostic Methods 4 Therapy 4.1 Prevention and Care 4.1.1 Ichthyosis 4.1.2 Epidermolysis bullosa 4.1.3 Epidermolytic hyperkeratosis 4.1.4 Pachyonychia congenita 4.1.5 Neurofibromatosis type I 4.2 Therapeutic Methods 5 Effects 6 See also 7 References 8 External links Hereditary Modes [ edit ] Genodermatosis is inherited in three modes: single gene inheritance, multiple gene inheritance and chromosome inheritance. [1] Single gene (Monogenic) [ edit ] Single gene inheritance of genodermatosis refers to the inheritance of a skin disease caused by one genetic abnormality and single gene heredity is divided into four kinds mainly. [2] Autosomal dominant inheritance [ edit ] The first kind is autosomal dominant inheritance, in this kind of inheritance, patients can be of any sex and their genodermatosis are often inherited from one of the parents. [2] Cases of skin disease that may be inherited in this kind of mode include epidermolysis bullosa simplex (EBS), acute intermittent porphyrin, white sponge nevus , ichthyosis , epidermolytic palmoplantar keratoderma, hereditary benign intraepithelial dyskeratosis and so on. [1] [2] [8] [9] Autosomal recessive inheritance [ edit ] The second kind is autosomal recessive inheritance, in this kind of inheritance, patients can be of any sex and inbreeding tends to lead to this inheritance. [2] Cases of skin disease that may be inherited in this kind of mode include epidermolysis bullosa , xeroderma pigmentosum , acrodermatitis enteropathica , ichthyosis and so on. [1] [2] X-linked dominant inheritance [ edit ] The third kind is X-linked dominant inheritance, in this kind of inheritance, patients can be of any sex. [2] Male patients can pass the disease on to their sons and the chances of female patients passing it to their daughters or sons are almost equal. [2] Cases of skin disease that may be inherited in this kind of mode include incontinentia pigmenti , focal dermal hypoplasia and so on. [1] [8] X-linked recessive inheritance [ edit ] The last kind is X-linked recessive inheritance, in this kind of inheritance, patients can be of any sex and the prevalence in men is higher than that in women. [2] Male patients cannot pass the disease on to their sons. [2] Cases of skin disease that may be inherited in this kind of mode include fabry disease , anhidrotic ectodermal dysplasia , dyskeratosis congenita and so on. [1] [2] Multiple gene (Polygenic) [ edit ] Multiple gene inheritance of genodermatosis refers to the inheritance of a skin disease caused by multiple genetic abnormalities. [2] Cases of skin disease that may be inherited in this mode include vitiligo , psoriasis , pemphigus vulgaris , systemic lupus erythematosus and so on. [2] [8] Chromosome [ edit ] Chromosome inheritance of genodermatosis refers to the inheritance of a skin disease caused by chromosome abnormality. ... Common types [ edit ] Ichthyosis [ edit ] Ichthyosis refers mainly to ichthyosis vulgaris , a common genodermatosis, people with this disease have a fishy, dry skin, which usually appears in early childhood and may disappear in adulthood. [10] The prevalence of ichthyosis vulgaris is high, affecting almost 1 per 250 people. [11] There are also rare types of ichthyosis, such as epidermolytic hyperkeratosis, harlequin ichthyosis and so on. [8] Rare types [ edit ] Michelin tyre baby syndrome [ edit ] Michelin tyre baby syndrome is a rare genodermatosis that occurs at birth, the skin of the patients is stacked symmetrically in layers like the image of the Michelin tyre’s mascot, which is also how this disease got its name. [12] Epidermolysis bullosa [ edit ] Epidermolysis bullosa is a rare type of genodermatosis, people with this disease have blisters on their skin and this disease is never completely cured for a lifetime. [13] Epidermolysis bullosa is mainly subdivided into four types: dystrophic epidermolysis bullosa , epidermolysis bullosa simplex, junctional epidermolysis bullosa and kindler syndrome . [13] Almost 1 in 50,000 people has epidermolysis bullosa. [14] Pachyonychia congenita [ edit ] Dystrophic epidermolysis bullosa Epidermolytic hyperkeratosis Hidrotic ectodermal dysplasia Pachyonychia congenita is a rare type of genodermatosis, its clinical manifestations are abnormal enlargement of fingernails or toenails, excessive or poor palmoplantar keratinization, excessive sweating in the palmar or the plantar. [15] Between 5000 and 10000 people in the world suffer from pachyonychia congenita. [16] Epidermolytic palmoplantar keratoderma [ edit ] Epidermolytic palmoplantar keratoderma often appears at birth and it is almost impossible to be cured completely. [9] The clinical manifestations of this disease include excessive palmoplantar keratinization, the palmar or plantar become yellow divergently with around the edges or abnormally excessive sweating and clinical manifestation appear in a symmetrical form on the body. [9] Hereditary benign intraepithelial dyskeratosis [ edit ] Hereditary benign intraepithelial dyskeratosis is a rare type of genodermatosis that may occur in infancy and early childhood, its symptoms often appear in the patients’ eyes and mouths. [17] The patients’ eyes appear red due to the dilatation of superficial vessels and appearance of conjunctival plaques in their eyes, patients may have variable-size, thick, soft and white plaques in their mouth. [17] Spring is an acute episode of symptoms, such as itching, erythema, photophobia and so on. [17] Epidermolytic hyperkeratosis [ edit ] Epidermolytic hyperkeratosis is a rare genodermatosis which is also referred to as disorder of cornification type 3 and bullous congenital ichthyosiform erthroderma, affecting almost 1 per 200,000 - 300,000 people. [18] They also stated that its clinical manifestations often begin at birth with large rashes all over the body, and the patients’ skin will be so sensitive that even mild wounds can cause blisters and peeling. ... Avery's Diseases of the Newborn . pp. 1475–1494.e1. doi : 10.1016/B978-0-323-40139-5.00104-2 . ISBN 978-0-323-40139-5 . ^ a b Tantcheva-Poór, Iliana; Oji, Vinzenz; Has, Cristina (October 2016). ... "Michelin tyre baby: A rare genodermatosis" . Indian Pediatrics . 50 (8): 808. doi : 10.1007/s13312-013-0208-8 . ... Retrieved from https://www.omim.org/entry/127600 ^ a b c d Kwak, Juliann; Maverakis, Emanual (8 September 2006). "Epidermolytic hyperkeratosis".