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Patchy alopecia

MedGen UID:
350774
Concept ID:
C1862862
Finding
Synonyms: Alopecia areata; Patchy baldness
 
HPO: HP:0002232

Definition

Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches. [from HPO]

Conditions with this feature

Behcet disease
MedGen UID:
2568
Concept ID:
C0004943
Disease or Syndrome
Behçet disease is an inflammatory condition that affects many parts of the body. The health problems associated with Behçet disease result from widespread inflammation of blood vessels (vasculitis). This inflammation most commonly affects small blood vessels in the mouth, genitals, skin, and eyes.\n\nPainful mouth sores called aphthous ulcers are usually the first sign of Behçet disease. These sores can occur on the lips, tongue, inside the cheeks, the roof of the mouth, the throat, and the tonsils. The ulcers look like common canker sores, and they typically heal within one to two weeks. About 75 percent of all people with Behçet disease develop similar ulcers on the genitals. These ulcers occur most frequently on the scrotum in men and on the labia in women.\n\nBehçet disease can also cause painful bumps and sores on the skin. Most affected individuals develop pus-filled bumps that resemble acne. These bumps can occur anywhere on the body. Some affected people also have red, tender nodules called erythema nodosum. These nodules usually develop on the legs but can also occur on the arms, face, and neck.\n\nAn inflammation of the eye called uveitis is found in more than half of people with Behçet disease. Eye problems are more common in younger people with the disease and affect men more often than women. Uveitis can result in blurry vision and an extreme sensitivity to light (photophobia). Rarely, inflammation can also cause eye pain and redness. If untreated, the eye problems associated with Behçet disease can lead to blindness.\n\nJoint involvement is also common in Behçet disease. Often this affects one joint at a time, with each affected joint becoming swollen and painful and then getting better.\n\nLess commonly, Behçet disease can affect the brain and spinal cord (central nervous system), gastrointestinal tract, large blood vessels, heart, lungs, and kidneys. Central nervous system abnormalities can lead to headaches, confusion, personality changes, memory loss, impaired speech, and problems with balance and movement. Involvement of the gastrointestinal tract can lead to a hole in the wall of the intestine (intestinal perforation), which can cause serious infection and may be life-threatening.\n\nThe signs and symptoms of Behçet disease usually begin in a person's twenties or thirties, although they can appear at any age. Some affected people have relatively mild symptoms that are limited to sores in the mouth and on the genitals. Others have more severe symptoms affecting various parts of the body, including the eyes and the vital organs. The features of Behçet disease typically come and go over a period of months or years. In most affected individuals, the health problems associated with this disorder improve with age.
Facial hemiatrophy
MedGen UID:
8761
Concept ID:
C0015458
Disease or Syndrome
Unilateral atrophy of facial tissues, including muscles, bones and skin.
Focal dermal hypoplasia
MedGen UID:
42055
Concept ID:
C0016395
Disease or Syndrome
Focal dermal hypoplasia is a multisystem disorder characterized primarily by involvement of the skin, skeletal system, eyes, and face. Skin manifestations present at birth include atrophic and hypoplastic areas of skin; cutis aplasia; fat nodules in the dermis manifesting as soft, yellow-pink cutaneous nodules; and pigmentary changes. Verrucoid papillomas of the skin and mucous membranes may appear later. The nails can be ridged, dysplastic, or hypoplastic; hair can be sparse or absent. Limb malformations include oligo-/syndactyly and split hand/foot. Developmental abnormalities of the eye can include anophthalmia/microphthalmia, iris and chorioretinal coloboma, and lacrimal duct abnormalities. Craniofacial findings can include facial asymmetry, notched alae nasi, cleft lip and palate, and pointed chin. Occasional findings include dental anomalies, abdominal wall defects, diaphragmatic hernia, and renal anomalies. Psychomotor development is usually normal; some individuals have cognitive impairment.
Lipid proteinosis
MedGen UID:
6112
Concept ID:
C0023795
Disease or Syndrome
Lipoid proteinosis (LP) is characterized by deposition of hyaline-like material in various tissues resulting in a hoarse voice from early infancy, vesicles and hemorrhagic crusts in the mouth and on the face and extremities, verrucous and keratotic cutaneous lesions on extensor surfaces (especially the elbows), and moniliform blepharosis (multiple beaded papules along the eyelid margins and inner canthus). Extracutaneous manifestations may include epilepsy, neuropsychiatric disorders, spontaneous CNS hemorrhage, and asymptomatic multiple yellowish nodules throughout the gastrointestinal tract. Generally, the disease course is chronic and fluctuating. Males and females are affected equally. Affected individuals have a normal life span unless they experience laryngeal obstruction.
Junctional epidermolysis bullosa, non-Herlitz type
MedGen UID:
82798
Concept ID:
C0268374
Disease or Syndrome
Junctional epidermolysis bullosa (JEB) is characterized by fragility of the skin and mucous membranes, manifest by blistering with little or no trauma. Blistering may be severe and granulation tissue can form on the skin around the oral and nasal cavities, fingers and toes, and internally around the upper airway. Blisters generally heal with no significant scarring. Broad classification of JEB includes JEB generalized severe and JEB generalized intermediate. In JEB generalized severe, blisters are present at birth or become apparent in the neonatal period. Congenital malformations of the urinary tract and bladder may also occur. In JEB generalized intermediate, the phenotype may be mild with blistering localized to hands, feet, knees, and elbows with or without renal or ureteral involvement. Some individuals never blister after the newborn period. Additional features shared by JEB and the other major forms of epidermolysis bullosa (EB) include congenital localized absence of skin (aplasia cutis congenita), milia, nail dystrophy, scarring alopecia, hypotrichosis, pseudosyndactyly, and other contractures.
Chondrodysplasia punctata 2 X-linked dominant
MedGen UID:
79381
Concept ID:
C0282102
Disease or Syndrome
The findings in X-linked chondrodysplasia punctata 2 (CDPX2) range from fetal demise with multiple malformations and severe growth retardation to much milder manifestations, including females with no recognizable physical abnormalities. At least 95% of live-born individuals with CDPX2 are female. Characteristic features include growth deficiency; distinctive craniofacial appearance; chondrodysplasia punctata (stippling of the epiphyses of the long bones, vertebrae, trachea, and distal ends of the ribs); often asymmetric rhizomelic shortening of limbs; scoliosis; linear or blotchy scaling ichthyosis in the newborn; later appearance of linear or whorled atrophic patches involving hair follicles (follicular atrophoderma); coarse hair with scarring alopecia; and cataracts.
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
MedGen UID:
98032
Concept ID:
C0406709
Disease or Syndrome
The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.
Syndromic X-linked intellectual disability Claes-Jensen type
MedGen UID:
335139
Concept ID:
C1845243
Disease or Syndrome
Claes-Jensen type of X-linked syndromic intellectual developmental disorder (MRXSCJ) is characterized by impaired intellectual development with substantial clinical heterogeneity in affected males. However, males are usually reported to have short stature, microcephaly, hyperreflexia, and aggressive behavior. In rare cases, female carriers exhibit mildly impaired intellectual development or learning difficulties (summary by Guerra et al., 2020).
Alopecia areata 2
MedGen UID:
343971
Concept ID:
C1853104
Disease or Syndrome
Immunodeficiency due to CD25 deficiency
MedGen UID:
377894
Concept ID:
C1853392
Disease or Syndrome
Immunodeficiency-41 is an autosomal recessive complex disorder of immune dysregulation. Affected individuals present in infancy with recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features, such as autoimmune enteropathy and eczematous skin lesions. Immunologic studies show a defect in T-cell regulation (summary by Goudy et al., 2013).
Familial focal alopecia
MedGen UID:
350835
Concept ID:
C1863092
Disease or Syndrome
Alopecia areata 1
MedGen UID:
400208
Concept ID:
C1863094
Disease or Syndrome
Alopecia areata is a genetically determined, immune-mediated disorder of the hair follicle with an estimated lifetime risk of approximately 2%, making it one of the most common human autoimmune diseases. It shows a spectrum of severity that ranges from patchy localized hair loss on the scalp to the complete absence of hair everywhere on the body (Gilhar and Kalish, 2006).
Scalp-ear-nipple syndrome
MedGen UID:
357183
Concept ID:
C1867020
Disease or Syndrome
Scalp-ear-nipple syndrome is characterized by aplasia cutis congenita of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears. Less frequent clinical characteristics include nail dystrophy, dental anomalies, cutaneous syndactyly of the digits, and renal malformations. Penetrance appears to be high, although there is substantial variable expressivity within families (Marneros et al., 2013).
Ectodermal dysplasia-syndactyly syndrome 1
MedGen UID:
462157
Concept ID:
C3150807
Disease or Syndrome
Ectodermal dysplasia-syndactyly syndrome (EDSS) is characterized by sparse to absent scalp hair, eyebrows, and eyelashes, hypoplastic nails, tooth enamel hypoplasia, conical-shaped teeth, palmoplantar keratoderma, and partial cutaneous syndactyly (summary by Raza et al., 2015). Genetic Heterogeneity of Ectodermal Dysplasia-Syndactyly Syndrome Ectodermal dysplasia-syndactyly syndrome-2 (EDSS2; 613576) maps to chromosome 7p21-p14.
TCR-alpha-beta-positive T-cell deficiency
MedGen UID:
815662
Concept ID:
C3809332
Disease or Syndrome
Immunodeficiency-7 (IMD7) is an autosomal recessive immunologic disorder characterized by onset of recurrent bacterial and viral infections in infancy or early childhood. Affected individuals may also have features of immune dysregulation, including lymphadenopathy and presence of autoantibodies. Laboratory studies show increased serum IgE, low numbers of T cells, low TCR-alpha/beta cells, and increased TCR-gamma/delta cells. The disorder often results in death in childhood, although bone marrow transplant is effective (summary by Morgan et al., 2011 and Rawat et al., 2021).
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
MedGen UID:
1615526
Concept ID:
C4540367
Disease or Syndrome
SHRF is an autosomal recessive disorder characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment. Onset of the hearing and visual abnormalities, including retinitis pigmentosa, varies from birth to the second decade. Patients have mild intellectual disability and mild cerebellar atrophy with myelination defects on brain imaging (summary by Di Donato et al., 2016).

Professional guidelines

PubMed

Hon KL, Luk DCK, Leung AKC, Ng C, Loo SKF
Recent Pat Inflamm Allergy Drug Discov 2020;14(2):117-132. doi: 10.2174/1872213X14999200728145822. PMID: 32723274
Ito T
J Dermatol 2012 Jan;39(1):11-7. doi: 10.1111/j.1346-8138.2011.01476.x. PMID: 22211297
Gupta AK, Ellis CN, Cooper KD, Nickoloff BJ, Ho VC, Chan LS, Hamilton TA, Tellner DC, Griffiths CE, Voorhees JJ
J Am Acad Dermatol 1990 Feb;22(2 Pt 1):242-50. doi: 10.1016/0190-9622(90)70032-d. PMID: 2138175

Recent clinical studies

Etiology

Naik PP, Farrukh SN
Postgrad Med 2021 Nov;133(8):895-898. Epub 2021 Sep 6 doi: 10.1080/00325481.2021.1974689. PMID: 34455910
Goldberg LJ, Castelo-Soccio LA
Clin Dermatol 2015 Nov-Dec;33(6):622-30. Epub 2015 Sep 16 doi: 10.1016/j.clindermatol.2015.09.005. PMID: 26686014
Mohan GC, Silverberg JI
JAMA Dermatol 2015 May;151(5):522-8. doi: 10.1001/jamadermatol.2014.3324. PMID: 25471826
Srivastava M, Mikkilineni R, Konstadt J
Dermatol Online J 2007 Jan 27;13(1):12. PMID: 17511945
Sharquie KE, Al-Obaidi HK
J Dermatol 2002 Jun;29(6):343-6. doi: 10.1111/j.1346-8138.2002.tb00277.x. PMID: 12126069

Diagnosis

Castillo R, Albayda J
Mod Rheumatol Case Rep 2022 Jun 24;6(2):199-202. doi: 10.1093/mrcr/rxac012. PMID: 35253877
Pratt CH, King LE Jr, Messenger AG, Christiano AM, Sundberg JP
Nat Rev Dis Primers 2017 Mar 16;3:17011. doi: 10.1038/nrdp.2017.11. PMID: 28300084Free PMC Article
Mohan GC, Silverberg JI
JAMA Dermatol 2015 May;151(5):522-8. doi: 10.1001/jamadermatol.2014.3324. PMID: 25471826
Ito T
J Dermatol 2012 Jan;39(1):11-7. doi: 10.1111/j.1346-8138.2011.01476.x. PMID: 22211297
Srivastava M, Mikkilineni R, Konstadt J
Dermatol Online J 2007 Jan 27;13(1):12. PMID: 17511945

Therapy

Hon KL, Luk DCK, Leung AKC, Ng C, Loo SKF
Recent Pat Inflamm Allergy Drug Discov 2020;14(2):117-132. doi: 10.2174/1872213X14999200728145822. PMID: 32723274
Pratt CH, King LE Jr, Messenger AG, Christiano AM, Sundberg JP
Nat Rev Dis Primers 2017 Mar 16;3:17011. doi: 10.1038/nrdp.2017.11. PMID: 28300084Free PMC Article
Ito T
J Dermatol 2012 Jan;39(1):11-7. doi: 10.1111/j.1346-8138.2011.01476.x. PMID: 22211297
Sharquie KE, Al-Obaidi HK
J Dermatol 2002 Jun;29(6):343-6. doi: 10.1111/j.1346-8138.2002.tb00277.x. PMID: 12126069
Hwang SM, Lee WS, Choi EH, Lee SH, Ahn SK
Int J Dermatol 1999 Mar;38(3):187-91. doi: 10.1046/j.1365-4362.1999.00556.x. PMID: 10208613

Prognosis

Castillo R, Albayda J
Mod Rheumatol Case Rep 2022 Jun 24;6(2):199-202. doi: 10.1093/mrcr/rxac012. PMID: 35253877
Naik PP, Farrukh SN
Postgrad Med 2021 Nov;133(8):895-898. Epub 2021 Sep 6 doi: 10.1080/00325481.2021.1974689. PMID: 34455910
Hon KL, Luk DCK, Leung AKC, Ng C, Loo SKF
Recent Pat Inflamm Allergy Drug Discov 2020;14(2):117-132. doi: 10.2174/1872213X14999200728145822. PMID: 32723274
Ito T
J Dermatol 2012 Jan;39(1):11-7. doi: 10.1111/j.1346-8138.2011.01476.x. PMID: 22211297
Srivastava M, Mikkilineni R, Konstadt J
Dermatol Online J 2007 Jan 27;13(1):12. PMID: 17511945

Clinical prediction guides

Castillo R, Albayda J
Mod Rheumatol Case Rep 2022 Jun 24;6(2):199-202. doi: 10.1093/mrcr/rxac012. PMID: 35253877
Naik PP, Farrukh SN
Postgrad Med 2021 Nov;133(8):895-898. Epub 2021 Sep 6 doi: 10.1080/00325481.2021.1974689. PMID: 34455910
Freire PCB, Riera R, Martimbianco ALC, Petri V, Atallah AN
J Eur Acad Dermatol Venereol 2019 Sep;33(9):1792-1799. Epub 2019 Jun 28 doi: 10.1111/jdv.15545. PMID: 30835901
Mohan GC, Silverberg JI
JAMA Dermatol 2015 May;151(5):522-8. doi: 10.1001/jamadermatol.2014.3324. PMID: 25471826
Sharquie KE, Al-Obaidi HK
J Dermatol 2002 Jun;29(6):343-6. doi: 10.1111/j.1346-8138.2002.tb00277.x. PMID: 12126069

Recent systematic reviews

Shen Y, Sun J, Zhu Y, Chen Y, Hu Y, Luo H, Song X
J Cosmet Dermatol 2023 May;22(5):1528-1535. Epub 2023 Jan 31 doi: 10.1111/jocd.15630. PMID: 36718837
Freire PCB, Riera R, Martimbianco ALC, Petri V, Atallah AN
J Eur Acad Dermatol Venereol 2019 Sep;33(9):1792-1799. Epub 2019 Jun 28 doi: 10.1111/jdv.15545. PMID: 30835901
Lee S, Kim BJ, Lee YB, Lee WS
JAMA Dermatol 2018 Oct 1;154(10):1145-1151. doi: 10.1001/jamadermatol.2018.2312. PMID: 30073292Free PMC Article
Mohan GC, Silverberg JI
JAMA Dermatol 2015 May;151(5):522-8. doi: 10.1001/jamadermatol.2014.3324. PMID: 25471826

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