Blaschko's lines

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Blaschko's lines
Maculae Bloch-Sulzberger syndrome.jpg
Incontinentia pigmenti forming along Blaschko's lines in a 3-year-old girl

Blaschko's lines, also called the lines of Blaschko, are lines of normal cell development in the skin. These lines are only visible in those with a mosaic [1] [2] [3] skin condition or in chimeras where different cell lines contain different genes. These lines may express different amounts of melanin, [4] or become visible due to a differing susceptibility to disease. In such individuals, they can become apparent as whorls, patches, streaks or lines in a linear or segmental distribution over the skin. They follow a V shape over the back, S-shaped whirls over the chest and sides, and wavy shapes on the head. [5] [6] Not all mosaic skin conditions follow Blaschko's lines. [7]

Contents

The lines are believed to trace the migration of embryonic cells. [8] [9] They do not correspond to nervous, muscular, or lymphatic systems. The lines are not unique to humans and can be observed in other non-human animals with mosaicism. [10] [11]

Alfred Blaschko is credited with the first demonstration of these lines in 1901. [12]

Signs and symptoms

The skin lesions that follow Blaschko's lines are varied. They include genetic, congenital and acquired (i.e., non-genetic) conditions. [13] Examples include:

History

Alfred Blaschko, a private practice dermatologist from Berlin, first described and drew the patterns of the lines of Blaschko in 1901. He obtained his data by studying over 140 patients with various nevoid and acquired skin diseases and transposed the visible patterns the diseases followed onto dolls and statues, then compiled the patterns onto a composite schematic of the human body. He described a system of lines across the surface of the human body that nevi and dermatological diseases tended to follow, unrelated to the dermatomes of the body or any other cutaneous or subcutaneous structure. [14] In the same month of 1901, an American dermatologist named Douglas Montgomery presented his own research paper before the American Dermatological Society, based on his studies of extensive linear nevi in human patients. Similar to Blaschko, he suggested that the linear patterns of nevi followed "streams" of tissue growth that occurred during embryogenesis rather than being related to an epidermal structure. [15]

In 1945, the Journal of Heredity published Russian scientist Moisey Davidovich Zlotnikov's research describing a 24-year-old woman with a unilateral, systematized nevus across the left side of her body, and proposed that the disorder was due to a mutation during the cell cleavage stage of development. Based on this hypothesis, Zlotnikov suggested that the only probable explanation for the sagittal asymmetry of the disease was a genetic mosaicism in the patient. [2] However, this proposal was not widely explored until re-hypothesized by German dermatologist Rudolf Happle in the 1970s [16] due to the state of genetic and medical research in the Soviet Union at the time, and recent end of World War II. [2]

The lines of Blaschko were first referred to as such by the English-speaking medical community after 1976, when Robert Jackson published a review and reconsideration of Blaschko's research. Jackson wished to inspire interaction between dermatologists who saw Blaschko's lines in patients, and developmental biologists studying embryology and chromosomal abnormalities such as mosaicism. [17]

Scientists such as Rudolf Happle and Jean Bolognia have further differentiated Blaschko's lines from other linear phenomena such as Langer's lines and expanded the map of the lines over the human body to include areas of the head, face, and neck, where Blaschko's original maps did not cover. [14] In 1985, Rudolf Happle proposed a link to lyonization and investigated the link to other X-linked skin disorders. Since that year, Scientists have continually explored the developmental hypothesis for the origins of Blaschko's lines, having found biological evidence to support the theory and linking the lines to other mosaicism and genetic-development related conditions and phenomena of the skin. [18] [19]

See also

Related Research Articles

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<span class="mw-page-title-main">Incontinentia pigmenti</span> Rare X-linked dominant genetic disorder

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<span class="mw-page-title-main">Nevus sebaceous</span> Medical condition

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Epidermal nevus syndrome is a rare disease that was first described in 1968 and consists of extensive epidermal nevi with abnormalities of the central nervous system (CNS), skeleton, skin, cardiovascular system, genitourinary system and eyes. However, since the syndrome's first description, a broader concept for the "epidermal nevus" syndrome has been proposed, with at least six types being described:

<span class="mw-page-title-main">Schimmelpenning syndrome</span> Medical condition

Schimmelpenning syndrome is a neurocutaneous condition characterized by one or more sebaceous nevi, usually appearing on the face or scalp, associated with anomalies of the central nervous system, ocular system, skeletal system, cardiovascular system and genitourinary system.

Phakomatosis pigmentokeratotica is a rare neurocutanous condition characterized by the combination of an organoid sebaceous nevus and speckled lentiginous nevus. It is an unusual variant of epidermal naevus syndrome. It was first described by Happle et al. It is often associated with neurological or skeletal anomalies such as hemiatrophy, dysaesthesia and hyperhidrosis in a segmental pattern, mild mental retardation, seizures, deafness, ptosis and strabismus.

<span class="mw-page-title-main">Inflammatory linear verrucous epidermal nevus</span> Medical condition

Inflammatory Linear Verrucous Epidermal Nevus is a rare disease of the skin that presents as multiple, discrete, red papules that tend to coalesce into linear plaques that follow the Lines of Blaschko. The plaques can be slightly warty (psoriaform) or scaly (eczema-like). ILVEN is caused by somatic mutations that result in genetic mosaicism. There is no cure, but different medical treatments can alleviate the symptoms.

<span class="mw-page-title-main">Benign melanocytic nevus</span> Medical condition

A benign melanocytic nevus is a cutaneous condition characterised by well-circumscribed, pigmented, round or ovoid lesions, generally measuring from 2 to 6 mm in diameter. A benign melanocytic nevus may feature hair or pigmentation as well.

<span class="mw-page-title-main">Supernumerary nipples–uropathies–Becker's nevus syndrome</span> Medical condition

Supernumerary nipples–uropathies–Becker's nevus syndrome is a skin condition that may be associated with genitourinary tract abnormalities. Supernumerary nipples, also referred to as polythelia or accessory nipples, is a pigmented lesion of the skin that is present at birth. This pigmentation usually occurs along the milk lines, which are the precursors to breast and nipple development. Clinically, this congenital condition is generally considered benign, but some studies have suggested there may be an association with kidney diseases and cancers of the urogenital system.

Linear atrophoderma of Moulin is an acquired unilateral dermatitis localized along the Blaschko lines. It affects children or adolescents of both genders, involving the trunk and the limbs. It is, presumably, a rare cutaneous form of mosaicism. This disease was first referred to as Atrophoderma of Moulin after Dr.Moulin who first reported it in 1992 then was renamed as linear atrophoderma of Moulin. Only a few dozen cases have been described; for this reason, LAM is considered to be a very rare disorder.

References

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  19. Happle R (July 1985). "Lyonization and the lines of Blaschko". Human Genetics. 70 (3): 200–206. doi:10.1007/BF00273442. PMID   3894210. S2CID   6702466.