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Acanthosis nigricans is a medical sign characterised by brown-to-black, poorly defined, velvety hyperpigmentation of the skin. It is usually found in body folds, such as the posterior and lateral folds of the neck, the armpits, groin, navel, forehead and other areas.
Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of the stratum corneum of the palms and soles.
Livedo reticularis is a common skin finding consisting of a mottled reticulated vascular pattern that appears as a lace-like purplish discoloration of the skin. The discoloration is caused by reduction in blood flow through the arterioles that supply the cutaneous capillaries, resulting in deoxygenated blood showing as blue discoloration. This can be a secondary effect of a condition that increases a person's risk of forming blood clots, including a wide array of pathological and nonpathological conditions. Examples include hyperlipidemia, microvascular hematological or anemia states, nutritional deficiencies, hyper- and autoimmune diseases, and drugs/toxins.
Yellow nail syndrome, also known as "primary lymphedema associated with yellow nails and pleural effusion", is a very rare medical syndrome that includes pleural effusions, lymphedema and yellow dystrophic nails. Approximately 40% will also have bronchiectasis. It is also associated with chronic sinusitis and persistent coughing. It usually affects adults.
Cutis laxa or pachydermatocele is a group of rare connective tissue disorders in which the skin becomes inelastic and hangs loosely in folds.
Pattern hair loss (also known as androgenetic alopecia (AGA)) is a hair loss condition that primarily affects the top and front of the scalp. In male-pattern hair loss (MPHL), the hair loss typically presents itself as either a receding front hairline, loss of hair on the crown (vertex) of the scalp, or a combination of both. Female-pattern hair loss (FPHL) typically presents as a diffuse thinning of the hair across the entire scalp.
Conradi–Hünermann syndrome is a rare type of chondrodysplasia punctata. It is associated with the EBP gene and affects between one in 100,000 and one in 200,000 babies.
Muehrcke's nails or Muehrcke's lines are changes in the fingernail that may be a sign of an underlying medical condition. The term refers to a set of one or more pale transverse bands extending all the way across the nail, parallel to the lunula. In contrast to Beau's lines, they are not grooved, and in contrast to Mees' lines, the thumb is usually not involved.
Gianotti–Crosti syndrome, also known as infantile papular acrodermatitis, papular acrodermatitis of childhood, and papulovesicular acrolocated syndrome, is a reaction of the skin to a viral infection. Hepatitis B virus and Epstein–Barr virus are the most frequently reported pathogens. Other viruses implicated are hepatitis A virus, hepatitis C virus, cytomegalovirus, coxsackievirus, adenovirus, enterovirus, rotavirus, rubella virus, HIV, and parainfluenza virus.
Keratitis–ichthyosis–deafness syndrome, also known as ichthyosiform erythroderma, corneal involvement, and deafness, presents at birth/infancy and is characterized by progressive corneal opacification, either mild generalized hyperkeratosis or discrete erythematous plaques, and neurosensory deafness.
Trichothiodystrophy (TTD) is an autosomal recessive inherited disorder characterised by brittle hair and intellectual impairment. The word breaks down into tricho – "hair", thio – "sulphur", and dystrophy – "wasting away" or literally "bad nourishment". TTD is associated with a range of symptoms connected with organs of the ectoderm and neuroectoderm. TTD may be subclassified into four syndromes: Approximately half of all patients with trichothiodystrophy have photosensitivity, which divides the classification into syndromes with or without photosensitivity; BIDS and PBIDS, and IBIDS and PIBIDS. Modern covering usage is TTD-P (photosensitive), and TTD.
Tooth and nail syndrome is a rare disorder, first described in 1965, characterized by nails that are thin, small, and friable, and which may show koilonychia at birth.
Erythema multiforme major is a form of rash with skin loss or epidermal detachment.
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:
Paraneoplastic acrokeratosis, or Bazex syndrome is a cutaneous condition characterized by psoriasiform changes of hands, feet, ears, and nose, with involvement of the nails and periungual tissues being characteristic and indistinguishable from psoriatic nails. The condition is associated with carcinomas of the upper aerodigestive tract.
Trichilemmoma is a benign cutaneous neoplasm that shows differentiation toward cells of the outer root sheath. The lesion is often seen in the face and neck region. Multifocal occurrence is associated with Cowden syndrome, in which hamartomatous intestinal polyposis is seen in conjunction with multiple tricholemmoma lesions.
An accessory auricle is considered a developmental anomaly resulting from the persistence of a structure which variably recapitulates the normal external ear.
Favre–Racouchot syndrome is a solar elastotic disorder consisting of multiple open comedones that occurs in skin damaged by sunlight, especially under and lateral of the eyes. The comedones are widened openings for hair follicles and sebaceous glands filled with material.
Miller syndrome, also known as Genée–Wiedemann syndrome, Wildervanck–Smith syndrome or postaxial acrofacial dysostosis, is an extremely rare genetic condition that manifests as craniofacial, limb and eye deformities. It is caused by a mutation in the DHODH gene. The incidence of the condition is not known, and nothing is known about its pathogenesis.
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome is a rare cutaneous condition characterized by ichthyosis and keratoderma.
References
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Wildervanck syndrome". www.orpha.net. Retrieved 28 April 2019.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ↑ "OMIM Entry-314600 - WILDERVANCK SYNDROME".
- ↑ "Wildervanck Syndrome".
- ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 894. ISBN 978-1-4160-2999-1.
- ↑ Mehta, B; Nayak, C; Savant, S; Amladi, S (2007). "Goldenhar syndrome with unusual features". Indian Journal of Dermatology, Venereology and Leprology. 74 (3): 254–6. doi: 10.4103/0378-6323.41374 . hdl: 1807/48126 . PMID 18583796.
