Schimmelpenning syndrome

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Schimmelpenning syndrome
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Child with Schimmelpenning syndrome
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Schimmelpenning syndrome is a neurocutaneous condition characterized by one or more sebaceous nevi, usually appearing on the face or scalp, [1] associated with anomalies of the central nervous system, ocular system, skeletal system, cardiovascular system and genitourinary system. [2]

Contents

Synonyms include: "Linear nevus sebaceous syndrome (LNSS)", "Schimmelpenning-Feuerstein-Mims syndrome", "Feuerstein-Mims syndrome", "sebaceous nevus syndrome", "Solomon syndrome", and "Jadassohn's nevus phakomatosis". "Nevus" is sometimes spelled "naevus" and "sebaceous" may also be spelled "sebaceus". "Epidermal nevus syndrome" is sometimes used as a synonym, but more often as a broader term referring to Schimmelpenning syndrome in addition to nevus comedonicus syndrome, CHILD syndrome, Becker's nevus syndrome, and phakomatosis pigmentokeratotica. [3]

The classic Schimmelpenning syndrome diagnosis comprises a triad of sebaceous nevi, seizures, and mental retardation. [2] The condition was first reported by Gustav Schimmelpenning in 1957 [4] and independently reported by Feuerstein and Mims in 1962. [5]

Signs and symptoms

Since the original identification of Schimmelpenning syndrome, the number of findings has expanded to the point that the syndrome is associated with a considerable constellation of abnormalities. [2] The abnormalities may occur in a variety of combinations, and need not include all three aspects of the classic triad of sebaceous nevus, seizures and mental retardation [ citation needed ]. In 1998, a literature review by van de Warrenburg et al. found:

The major neurological abnormalities include intellectual disability to varying extent, seizures, and hemiparesis. [7] Seizures, when present, typically begin during the first year of life. [8] The most common structural central nervous system abnormalities in Schimmelpenning syndrome are hemimegalencephaly and ipselateral gyral malformations. [3]

The major ocular abnormalities are colobomas and choristomas. [7]

Skeletal abnormalities may include dental irregularities, scoliosis, vitamin D-resistant rickets and hypophosphatemia. Cardiovascular abnormalities include ventricular septal defect and coarctation of the aorta; urinary system issues include horseshoe kidney and duplicated urinary collection system. [2]

Genetic

Schimmelpenning syndrome appears to be sporadic rather than inherited, in almost all cases. [2] It is thought to result from genetic mosaicism, possibly an autosomal dominant mutation arising after conception and present only in a subpopulation of cells. The earlier in embryological development such a mutation occurs, the more extensive the nevi are likely to be and the greater the likelihood of other organ system involvement. [9]

Diagnosis

Management

In general, children with a small isolated nevus and a normal physical exam do not need further testing; [9] treatment may include potential surgical removal of the nevus. [10] If syndrome issues are suspected, neurological, ocular, and skeletal exams are important. Laboratory investigations may include serum and urine calcium and phosphate, and possibly liver and renal function tests. The choice of imaging studies depends on the suspected abnormalities and might include skeletal survey, CT scan of the head, MRI, and/or EEG. [9]

Depending on the systems involved, an individual with Schimmelpenning syndrome may need to see an interdisciplinary team of specialists: dermatologist, neurologist, ophthalmologist, orthopedic surgeon, oral surgeon, plastic surgeon, psychologist. [9]

Incidence

Nevus sebaceous was first identified in 1895 by Jadassohn. [11] Sebaceous nevi occur in 1 to 3 of 1000 births, with equal incidence by sex. [3] There is no test to determine whether an individual born with a sebaceous nevus will go on to develop further symptoms of Schimmelpenning syndrome. It has been reported that up to 10% of individuals with epidermal nevi may develop additional syndrome symptoms, [3] but that number appears to be inconsistent with the rarity of the syndrome and may be overstated. [12] Prevalence is unknown, but Epidermal nevus syndrome is listed with the National Organization for Rare Disorders, which defines rare as affecting "fewer than 200,000 people in the United States." [13]

See also

Related Research Articles

<span class="mw-page-title-main">Nevus</span> Mole or birthmark; visible, circumscribed, chronic skin lesion

Nevus is a nonspecific medical term for a visible, circumscribed, chronic lesion of the skin or mucosa. The term originates from nævus, which is Latin for "birthmark"; however, a nevus can be either congenital or acquired. Common terms, including mole, birthmark, and beauty mark, are used to describe nevi, but these terms do not distinguish specific types of nevi from one another.

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

A dysplastic nevus or atypical mole is a nevus (mole) whose appearance is different from that of common moles. In 1992, the NIH recommended that the term "dysplastic nevus" be avoided in favor of the term "atypical mole". An atypical mole may also be referred to as an atypical melanocytic nevus, atypical nevus, B-K mole, Clark's nevus, dysplastic melanocytic nevus, or nevus with architectural disorder.

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

A comedo is a clogged hair follicle (pore) in the skin. Keratin combines with oil to block the follicle. A comedo can be open (blackhead) or closed by skin (whitehead) and occur with or without acne. The word "comedo" comes from the Latin comedere, meaning "to eat up", and was historically used to describe parasitic worms; in modern medical terminology, it is used to suggest the worm-like appearance of the expressed material.

<span class="mw-page-title-main">Abdallat–Davis–Farrage syndrome</span> Medical condition

Abdallat–Davis–Farrage syndrome is a form of phakomatosis, a disease of the central nervous system accompanied by skin abnormalities. It is characterized by the out of the ordinary pigment of the skin that is abnormal to one's genetics or the color perceived on a basis.

Phakomatoses, also known neurocutaneous syndromes, are a group of multisystemic diseases that most prominently affect structures primarily derived from the ectoderm such as the central nervous system, skin and eyes. The majority of phakomatoses are single-gene disorders that may be inherited in an autosomal dominant, autosomal recessive or X-linked pattern. Presentations may vary dramatically between patients with the same particular syndrome due to mosaicism, variable expressivity, and penetrance.

<span class="mw-page-title-main">Congenital melanocytic nevus</span> Congenital mole caused by genetic mutations

The congenital melanocytic nevus is a type of melanocytic nevus found in infants at birth. This type of birthmark occurs in an estimated 1% of infants worldwide; it is located in the area of the head and neck 15% of the time.

<span class="mw-page-title-main">Becker's nevus</span> Medical condition

Becker's nevus is a benign skin disorder predominantly affecting males. The nevus can be present at birth, but more often shows up around puberty. It generally first appears as an irregular pigmentation on the torso or upper arm, and gradually enlarges irregularly, becoming thickened and often hairy (hypertrichosis). The nevus is due to an overgrowth of the epidermis, pigment cells (melanocytes), and hair follicles. This form of nevus was first documented in 1948 by American dermatologist Samuel William Becker (1894–1964).

<span class="mw-page-title-main">Blaschko's lines</span> Anatomical structure

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 skin condition or in chimeras where different cell lines contain different genes. These lines may express different amounts of melanin, 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. Not all mosaic skin conditions follow Blaschko's lines.

<span class="mw-page-title-main">Blue nevus</span> Type of melanocytic tumor

A blue nevus is a type of coloured mole, typically a single well-defined blue-black bump.

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

A Spitz nevus is a benign skin lesion. A type of melanocytic nevus, it affects the epidermis and dermis.

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

Nevus sebaceus or sebaceous nevus is a congenital, hairless plaque that typically occurs on the face or scalp. Such nevi are classified as epidermal nevi and can be present at birth, or early childhood, and affect males and females of all races equally. The condition is named for an overgrowth of sebaceous glands, a relatively uncommon hamartoma, in the area of the nevus. NSJ is first described by Josef Jadassohn in 1895.

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:

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">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.

Focal facial dermal dysplasia is a rare genetically heterogeneous group of disorders that are characterized by congenital bilateral scar like facial lesions, with or without associated facial anomalies. It is characterized by hairless lesions with fingerprint like puckering of the skin, especially at the temples, due to alternating bands of dermal and epidermal atrophy.

<span class="mw-page-title-main">Neurocutaneous melanosis</span> Congenital disorder involving melanocytic tumours in the skin and brain

Neurocutaneous melanosis is a congenital disorder characterized by the presence of congenital melanocytic nevi on the skin and melanocytic tumors in the leptomeninges of the central nervous system. These lesions may occur in the amygdala, cerebellum, cerebrum, pons and spinal cord of patients. Although typically asymptomatic, malignancy occurs in the form of leptomeningeal melanoma in over half of patients. Regardless of the presence of malignancy, patients with symptomatic neurocutaneous melanosis generally have a poor prognosis with few treatment options. The pathogenesis of neurocutaneous melanosis is believed to be related to the abnormal postzygotic development of melanoblasts and mutations of the NRAS gene.

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

CLOVES syndrome is a rare overgrowth syndrome with complex vascular anomalies. CLOVES syndrome affects people with various symptoms, ranging from mild fatty soft-tissue tumors to vascular malformations encompassing the spine or internal organs.

Encephalocraniocutaneous lipomatosis (ECCL), is a rare condition primarily affecting the brain, eyes, and skin of the head and face. It is characterized by unilateral subcutaneous and intracranial lipomas, alopecia, unilateral porencephalic cysts, epibulbar choristoma and other ophthalmic abnormalities. This condition is described as sporadic because it occurs in people without a history of the disorder in their family.

References

  1. ↑ Menascu, Shay; Donner, Elizabeth J. (2008). "Linear nevus sebaceous syndrome: case reports and review of the literature". Pediatric Neurology. 38 (3): 207–10. doi:10.1016/j.pediatrneurol.2007.10.012. ISSN   0887-8994. PMID   18279757.
  2. 1 2 3 4 5 Eisen, D.B.; Michael, D.J. (2009). "Sebaceous lesions and their associated syndromes: Part II". Journal of the American Academy of Dermatology. 61 (4): 563–78. doi:10.1016/j.jaad.2009.04.059. ISSN   0190-9622. PMID   19751880.
  3. 1 2 3 4 Burns, Tony, ed. (2004). Rook's Textbook of Dermatology (7th ed.). Malden, Mass.: Blackwell Science. ISBN   0-632-06429-3.
  4. ↑ Schimmelpenning, G. (1957). "Klinischer Beitrag zur Symptomatology der Phacomatosen". Fortschr Röntgenstr. 87 (6): 716–20. doi:10.1055/s-0029-1213358. PMID   13512450.
  5. ↑ Feuerstein, RC; Mims, LC (1962). "Linear nevus sebaceus with convulsions and mental retardation". Am. J. Dis. Child. 104 (6): 674–679. doi:10.1001/archpedi.1962.02080030675013. PMID   13944982.
  6. ↑ van de Warrenburg BP, van Gulik S, Renier WO, Lammens M, Doelman JC (1998). "The linear naevus sebaceus syndrome". Clinical Neurology and Neurosurgery. 100 (2): 126–132. doi:10.1016/S0303-8467(98)00012-2. PMID   9746301. S2CID   21035027.
  7. 1 2 Harper, J.; A.P. Oranje; N.S. Prose (2006). Textbook of Pediatric Dermatology. Malden, Mass.: Blackwell.
  8. ↑ Lovejoy FH Jr, Boyle WE Jr (1973). "nevus sebaceous syndrome: Report of two cases and a review of the literature". Pediatrics. 52 (3): 382–7. doi:10.1542/peds.52.3.382. PMID   4730395. S2CID   44769311.
  9. 1 2 3 4 Roach, E. Steve, ed. (2004). Neurocutaneous Disorders. Cambridge, UK: Cambridge University Press. pp. 88–104. ISBN   0-521-78153-1.
  10. ↑ Eisen, DB; DJ Michael (2009). "Sebaceous lesions and their associated syndromes: Part I". J Am Acad Dermatol. 61 (4): 549–60. doi:10.1016/j.jaad.2009.04.058. PMID   19751879.
  11. ↑ Jadassohn, J. (1895). "Bemerkungen zur Histologie der systematisirten Naevi und ueber 'Talgdruesen-naevi'". Archiv für Dermatologie und Syphilis. 33: 355–372. doi:10.1007/BF01842810. S2CID   7701624.
  12. ↑ "LNSS Connections: About Linear Nevus Sebaceous Syndrome". 2010-04-13. Retrieved 2010-04-15.
  13. ↑ "Disease Information from NORD, National Organization of Rare Diseases, Inc". 2010-01-20. Retrieved 2010-04-15.
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