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Heat intolerance

MedGen UID:
66659
Concept ID:
C0231274
Pathologic Function
Synonym: Intolerance to heat and fevers
SNOMED CT: Sensitive to heat (69215007); Gets overheated (69215007); Intolerant of heat (69215007)
 
HPO: HP:0002046

Definition

The inability to maintain a comfortable body temperature in warm or hot weather. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHeat intolerance

Conditions with this feature

Hypohidrotic X-linked ectodermal dysplasia
MedGen UID:
57890
Concept ID:
C0162359
Disease or Syndrome
Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, at a later-than-average age. Physical growth and psychomotor development are otherwise within normal limits. Mild HED is characterized by mild manifestations of any or all the characteristic features.
Naegeli-Franceschetti-Jadassohn syndrome
MedGen UID:
91010
Concept ID:
C0343111
Disease or Syndrome
Naegeli-Franceschetti-Jadassohn syndrome (NFJS) is a rare autosomal dominant disorder of skin, hair, and teeth. It is characterized by complete absence of dermatoglyphics (fingerprint lines), a reticulate pattern of skin hyperpigmentation that tends to disappear with age, thickening of the palms and soles (palmoplantar keratoderma), and decreased sweating. Dental anomalies including enamel defects, skin blistering, and nail dystrophy have been reported in some patients. It can be distinguished from dermatopathia pigmentosa reticularis (DPR) by the latter's features of lifelong persistence of the skin hyperpigmentation, partial alopecia, and absence of dental anomalies (summary by Lugassy et al., 2006).
Phelan-McDermid syndrome
MedGen UID:
339994
Concept ID:
C1853490
Disease or Syndrome
Phelan-McDermid syndrome is characterized by neonatal hypotonia, absent to severely delayed speech, developmental delay, and minor dysmorphic facial features. Most affected individuals have moderate to profound intellectual disability. Other features include large fleshy hands, dysplastic toenails, and decreased perspiration that results in a tendency to overheat. Normal stature and normal head size distinguishes Phelan-McDermid syndrome from other autosomal chromosome disorders. Behavior characteristics include mouthing or chewing non-food items, decreased perception of pain, and autism spectrum disorder or autistic-like affect and behavior.
Tooth agenesis, selective, X-linked, 1
MedGen UID:
410143
Concept ID:
C1970757
Disease or Syndrome
Any tooth agenesis in which the cause of the disease is a mutation in the EDA gene.
Ectodermal dysplasia and immunodeficiency 2
MedGen UID:
394295
Concept ID:
C2677481
Disease or Syndrome
EDAID2 is characterized by variable features of ectodermal dysplasia (e.g., hypo/anhidrosis, sparse hair, tooth anomalies) and various immunologic and infectious phenotypes of differing severity (summary by Boisson et al., 2017). Some patients may also have neutrophilia and autoinflammatory disease, such as liver disease (Tan et al., 2020). Mutations in the NFKBIA gene result in functional impairment of NFKB (see 164011), a master transcription factor required for normal activation of immune responses. Interruption of NFKB signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007). For discussion of genetic heterogeneity of ectodermal dysplasia and immune deficiency, see 300291.
Combined immunodeficiency due to ORAI1 deficiency
MedGen UID:
440578
Concept ID:
C2748568
Disease or Syndrome
Immunodeficiency-9 (IMD9) is an autosomal recessive disorder characterized by early onset of recurrent infections due to defective T-cell activation. Affected individuals also have congenital myopathy resulting in muscle weakness as well as features of ectodermal dysplasia, including soft dental enamel (summary by McCarl et al., 2009).
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.
Autosomal recessive congenital ichthyosis 3
MedGen UID:
761665
Concept ID:
C3539888
Disease or Syndrome
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; 242500) (Oji et al., 2010). NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006). In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005). For a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300).
Cardiofaciocutaneous syndrome 3
MedGen UID:
815336
Concept ID:
C3809006
Disease or Syndrome
Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis). The hair is typically sparse, curly, fine or thick, woolly or brittle; eyelashes and eyebrows may be absent or sparse. Nails may be dystrophic or fast growing. Some form of neurologic and/or cognitive delay (ranging from mild to severe) is seen in all affected individuals. Neoplasia, mostly acute lymphoblastic leukemia, has been reported in some individuals.
Cardiofaciocutaneous syndrome 4
MedGen UID:
815337
Concept ID:
C3809007
Disease or Syndrome
Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis). The hair is typically sparse, curly, fine or thick, woolly or brittle; eyelashes and eyebrows may be absent or sparse. Nails may be dystrophic or fast growing. Some form of neurologic and/or cognitive delay (ranging from mild to severe) is seen in all affected individuals. Neoplasia, mostly acute lymphoblastic leukemia, has been reported in some individuals.
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
MedGen UID:
854356
Concept ID:
C3887494
Disease or Syndrome
Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, at a later-than-average age. Physical growth and psychomotor development are otherwise within normal limits. Mild HED is characterized by mild manifestations of any or all the characteristic features.
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
MedGen UID:
854747
Concept ID:
C3888065
Disease or Syndrome
Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, at a later-than-average age. Physical growth and psychomotor development are otherwise within normal limits. Mild HED is characterized by mild manifestations of any or all the characteristic features.
HELIX syndrome
MedGen UID:
1621482
Concept ID:
C4522164
Disease or Syndrome
HELIX syndrome is an autosomal recessive disorder characterized by Hypohidrosis, Electrolyte imbalance, Lacrimal gland dysfunction, Ichthyosis, and Xerostomia (summary by Hadj-Rabia et al., 2018).
Central hypoventilation syndrome, congenital, 3
MedGen UID:
1794174
Concept ID:
C5561964
Disease or Syndrome
Congenital central hypoventilation syndrome-3 (CCHS3) is an autosomal recessive disorder characterized by slow and shallow breathing due to a deficiency in autonomic control of respiration. Affected individuals present in the neonatal period with respiratory insufficiency and absence of the hypercapnic reflex that stimulates breathing. Patients also have gastrointestinal problems manifest as feeding difficulties and diarrhea or constipation. Other features may include poor heat tolerance and paroxysmal hypertension (Hernandez-Miranda et al., 2018). For a discussion of genetic heterogeneity of CCHS, see CCHS1 (209880).
Isolated anhidrosis with normal sweat glands
MedGen UID:
1800259
Concept ID:
C5568836
Disease or Syndrome
Isolated anhidrosis with normal sweat glands (ANHD) is characterized by absence of perspiration and subsequent heat intolerance with normal morphology and number of sweat glands. Teeth, hair, nails, and skin are normal (Klar et al., 2014).
Intellectual developmental disorder, X-linked 112
MedGen UID:
1840225
Concept ID:
C5829589
Disease or Syndrome
X-linked intellectual disorder-112 (XLID112) is a neurodevelopmental disorder characterized by developmental delay, with speech delay more prominent than motor delay, autism or autism traits, and variable dysmorphic features. Affected females have been reported, which appears to be related to skewed X-inactivation (summary by Hiatt et al., 2023).

Professional guidelines

PubMed

Peltier AC
Prim Care 2024 Jun;51(2):359-373. Epub 2024 Mar 20 doi: 10.1016/j.pop.2024.02.006. PMID: 38692780
Bernardes TP, Foresto RD, Kirsztajn GM
Rev Assoc Med Bras (1992) 2020 Jan 13;66Suppl 1(Suppl 1):s10-s16. doi: 10.1590/1806-9282.66.S1.10. PMID: 31939530
Mahmud HM
J Pak Med Assoc 2014 Feb;64(2):189-94. PMID: 24640811

Recent clinical studies

Etiology

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Semin Neurol 2020 Oct;40(5):560-568. Epub 2020 Sep 9 doi: 10.1055/s-0040-1713847. PMID: 32906168

Diagnosis

Lee SY, Pearce EN
JAMA 2023 Oct 17;330(15):1472-1483. doi: 10.1001/jama.2023.19052. PMID: 37847271Free PMC Article
Gutiérrez-Cerrajero C, Sprecher E, Paller AS, Akiyama M, Mazereeuw-Hautier J, Hernández-Martín A, González-Sarmiento R
Nat Rev Dis Primers 2023 Jan 19;9(1):2. doi: 10.1038/s41572-022-00412-3. PMID: 36658199
Vaidyanathan P
Adv Pediatr 2022 Aug;69(1):219-229. Epub 2022 Jun 20 doi: 10.1016/j.yapd.2022.04.004. PMID: 35985711
Bernardes TP, Foresto RD, Kirsztajn GM
Rev Assoc Med Bras (1992) 2020 Jan 13;66Suppl 1(Suppl 1):s10-s16. doi: 10.1590/1806-9282.66.S1.10. PMID: 31939530
Mahmud HM
J Pak Med Assoc 2014 Feb;64(2):189-94. PMID: 24640811

Therapy

Lee SY, Pearce EN
JAMA 2023 Oct 17;330(15):1472-1483. doi: 10.1001/jama.2023.19052. PMID: 37847271Free PMC Article
Vaidyanathan P
Adv Pediatr 2022 Aug;69(1):219-229. Epub 2022 Jun 20 doi: 10.1016/j.yapd.2022.04.004. PMID: 35985711
Rhodes MA, Adams CS, Bragg S, Christian N
FP Essent 2022 Mar;514:11-17. PMID: 35235281
Mahmud HM
J Pak Med Assoc 2014 Feb;64(2):189-94. PMID: 24640811
Mokhashi MH, Desai U, Desai MP
Indian J Pediatr 2000 Sep;67(9):653-6. doi: 10.1007/BF02762177. PMID: 11028118

Prognosis

Gutiérrez-Cerrajero C, Sprecher E, Paller AS, Akiyama M, Mazereeuw-Hautier J, Hernández-Martín A, González-Sarmiento R
Nat Rev Dis Primers 2023 Jan 19;9(1):2. doi: 10.1038/s41572-022-00412-3. PMID: 36658199
Lee JKW, Tan B, Kingma BRM, Haman F, Epstein Y
J Sci Med Sport 2023 Jun;26 Suppl 1:S71-S78. Epub 2022 Dec 23 doi: 10.1016/j.jsams.2022.12.006. PMID: 36623995
Bernardes TP, Foresto RD, Kirsztajn GM
Rev Assoc Med Bras (1992) 2020 Jan 13;66Suppl 1(Suppl 1):s10-s16. doi: 10.1590/1806-9282.66.S1.10. PMID: 31939530
Yanovich R, Ketko I, Muginshtein-Simkovitch J, Yanovich E, Eliyahu U, Fleischmann C, Atias-Varon D, Waissengrin B, Makranz C, Heled Y
Res Q Exerc Sport 2019 Sep;90(3):307-317. Epub 2019 Jun 6 doi: 10.1080/02701367.2019.1599799. PMID: 31169467
Hashim IA
Ann Clin Biochem 2010 Nov;47(Pt 6):516-23. Epub 2010 Oct 6 doi: 10.1258/acb.2010.010186. PMID: 20926467

Clinical prediction guides

Lee SY, Pearce EN
JAMA 2023 Oct 17;330(15):1472-1483. doi: 10.1001/jama.2023.19052. PMID: 37847271Free PMC Article
Gutiérrez-Cerrajero C, Sprecher E, Paller AS, Akiyama M, Mazereeuw-Hautier J, Hernández-Martín A, González-Sarmiento R
Nat Rev Dis Primers 2023 Jan 19;9(1):2. doi: 10.1038/s41572-022-00412-3. PMID: 36658199
Lee JKW, Tan B, Kingma BRM, Haman F, Epstein Y
J Sci Med Sport 2023 Jun;26 Suppl 1:S71-S78. Epub 2022 Dec 23 doi: 10.1016/j.jsams.2022.12.006. PMID: 36623995
Schiffmann N, Schermann H, Mazgaoker S, Shaulov Y, Gabbay U, Epstein Y, Yanovich R
Clin J Sport Med 2021 May 1;31(3):232-236. doi: 10.1097/JSM.0000000000000712. PMID: 30585796
Davis SL, Jay O, Wilson TE
Handb Clin Neurol 2018;157:701-714. doi: 10.1016/B978-0-444-64074-1.00042-2. PMID: 30459034

Recent systematic reviews

Alele F, Malau-Aduli B, Malau-Aduli A, Crowe M
BMJ Open 2020 Apr 6;10(4):e031825. doi: 10.1136/bmjopen-2019-031825. PMID: 32265238Free PMC Article
Zen XX, Yuan Y, Liu Y, Wu TX, Han S
Cochrane Database Syst Rev 2007 Apr 18;2007(2):CD005450. doi: 10.1002/14651858.CD005450.pub2. PMID: 17443591Free PMC Article

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