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Acrocyanosis

MedGen UID:
65138
Concept ID:
C0221347
Finding
Synonyms: Crocq's disease; Persistent blue color of hands or feet; Persistent blue colour of hands or feet
SNOMED CT: Acrocyanosis (25003006); Crocq's disease (25003006)
 
HPO: HP:0001063

Definition

Bluish discoloration of the skin of the hands or feet. [from HPO]

Term Hierarchy

Conditions with this feature

Familial dysautonomia
MedGen UID:
41678
Concept ID:
C0013364
Disease or Syndrome
Familial dysautonomia, which affects the development and survival of sensory, sympathetic, and parasympathetic neurons, is a debilitating disorder present from birth. Neuronal degeneration progresses throughout life. Affected individuals have gastrointestinal dysfunction, autonomic crises (i.e., hypertensive vomiting attacks), recurrent pneumonia, altered pain sensitivity, altered temperature perception, and blood pressure instability. Hypotonia contributes to delay in acquisition of motor milestones. Optic neuropathy results in progressive vision loss. Older individuals often have a broad-based and ataxic gait that deteriorates over time. Developmental delay / intellectual disability occur in about 21% of individuals. Life expectancy is decreased.
Coffin-Lowry syndrome
MedGen UID:
75556
Concept ID:
C0265252
Disease or Syndrome
Coffin-Lowry syndrome (CLS) is usually characterized by severe-to-profound intellectual disability in males; less severely impaired individuals have been reported. Neuropsychiatric concerns can include behavioral problems, loss of strength, progressive spasticity or paraplegia, sleep apnea, or stroke. Stimulus-induced drop attacks (SIDAs) in which unexpected tactile or auditory stimuli or excitement triggers a brief collapse but no loss of consciousness are present in approximately 20% of affected individuals. Typically SIDAs begin between mid-childhood and the teens. Characteristic facial features may be more apparent with age. Upper-extremity differences may be subtle and include short, soft, fleshy hands with tapered fingers as well as fleshy forearms. Progressive kyphoscoliosis is one of the most difficult aspects of long-term care. Affected females tend to have intellectual disability in the mild-to-moderate range and may also have the typical facial, hand, and skeletal findings noted in males.
Primary hyperoxaluria, type I
MedGen UID:
75658
Concept ID:
C0268164
Disease or Syndrome
Primary hyperoxaluria type 1 (PH1) is caused by a deficiency of the liver peroxisomal enzyme alanine:glyoxylate-aminotransferase (AGT), which catalyzes the conversion of glyoxylate to glycine. When AGT activity is absent, glyoxylate is converted to oxalate, which forms insoluble calcium oxalate crystals that accumulate in the kidney and other organs. Individuals with PH1 are at risk for recurrent nephrolithiasis (deposition of calcium oxalate in the renal pelvis / urinary tract), nephrocalcinosis (deposition of calcium oxalate in the renal parenchyma), or end-stage renal disease (ESRD). Age at onset of symptoms ranges from infancy to the sixth decade. Approximately 10% of affected individuals present in infancy or early childhood with nephrocalcinosis, with or without nephrolithiasis, and failure to thrive related to renal failure. The majority of individuals with PH1 present in childhood or early adolescence, usually with symptomatic nephrolithiasis and normal or reduced kidney function. The remainder of affected individuals present in adulthood with recurrent renal stones and a mild-to-moderate reduction in kidney function. The natural history of untreated PH1 is one of progressive decline in renal function as a result of calcium oxalate deposits in kidney tissue and complications of nephrolithiasis (e.g., obstruction and infection) with eventual progression to oxalosis (widespread tissue deposition of calcium oxalate) and death from ESRD and/or complications of oxalosis.
Bullous dystrophy, macular type
MedGen UID:
167089
Concept ID:
C0795974
Disease or Syndrome
Hereditary bullous dystrophy of the macular type (HBDM) is a rare X-linked recessive disorder characterized by the formation of bullae without evident trauma, hyper- and hypopigmentation, absence of hair at birth, and, in some cases, microcephaly, mildly impaired intellectual development, short conic fingers, and aberrations of nails (summary by Wijker et al., 1995).
Aicardi-Goutieres syndrome 1
MedGen UID:
162912
Concept ID:
C0796126
Disease or Syndrome
Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with pathogenic variants in the AGS-related genes is not yet known.
Cryofibrinogenemia, familial primary
MedGen UID:
377679
Concept ID:
C1852457
Disease or Syndrome
Ethylmalonic encephalopathy
MedGen UID:
355966
Concept ID:
C1865349
Disease or Syndrome
Ethylmalonic encephalopathy (EE) is a severe, early-onset, progressive disorder characterized by developmental delay / mild-to-severe intellectual disability; generalized infantile hypotonia that evolves into hypertonia, spasticity, and (in some instances) dystonia; generalized tonic-clonic seizures; and generalized microvascular damage (diffuse and spontaneous relapsing petechial purpura, hemorrhagic suffusions of mucosal surfaces, and chronic hemorrhagic diarrhea). Infants sometimes have frequent vomiting and loss of social interaction. Speech is delayed and in some instances absent. Swallowing difficulties and failure to thrive are common. Children may be unable to walk without support and may be wheelchair bound. Neurologic deterioration accelerates following intercurrent infectious illness, and the majority of children die in the first decade.
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
MedGen UID:
482322
Concept ID:
C3280692
Disease or Syndrome
The Zaki-Gleeson syndrome is an autosomal recessive neurodevelopmental disorder characterized by profound mental retardation, severe microcephaly, poor growth, cerebellar hypoplasia, and second-degree cardiac conduction defects (Zaki et al., 2011).

Professional guidelines

PubMed

Gelbenegger G, Berentsen S, Jilma B
Expert Opin Biol Ther 2023 May;23(5):395-406. Epub 2023 May 15 doi: 10.1080/14712598.2023.2209265. PMID: 37128907
Despotovic JM, Kim TO
Hematology Am Soc Hematol Educ Program 2022 Dec 9;2022(1):90-95. doi: 10.1182/hematology.2022000369. PMID: 36485161Free PMC Article
Linnemann B, Erbe M
Vasa 2015 May;44(3):166-77. doi: 10.1024/0301-1526/a000426. PMID: 26098320

Recent clinical studies

Etiology

Gelbenegger G, Berentsen S, Jilma B
Expert Opin Biol Ther 2023 May;23(5):395-406. Epub 2023 May 15 doi: 10.1080/14712598.2023.2209265. PMID: 37128907
Röth A, Berentsen S, Barcellini W, D'Sa S, Jilma B, Michel M, Weitz IC, Yamaguchi M, Nishimura JI, Vos JMI, Storek M, Wong N, Patel P, Jiang X, Vagge DS, Wardęcki M, Shafer F, Lee M, Broome CM
Blood 2022 Sep 1;140(9):980-991. doi: 10.1182/blood.2021014955. PMID: 35687757Free PMC Article
Casanegra AI, Shepherd RF
Cardiol Clin 2021 Nov;39(4):583-599. doi: 10.1016/j.ccl.2021.06.010. PMID: 34686269
Sanghvi AR
Int J Dermatol 2020 Dec;59(12):1437-1449. Epub 2020 Oct 27 doi: 10.1111/ijd.15257. PMID: 33107038
Klein-Weigel PF, Volz TS, Richter JG
Vasa 2018 Feb;47(2):91-97. Epub 2018 Jan 4 doi: 10.1024/0301-1526/a000675. PMID: 29299961

Diagnosis

Horton A, Hong KM, Pandithan D, Allen M, Killick C, Goergen S, Springer A, Phelan D, Marty M, Halligan R, Lee J, Pitt J, Chong B, Christodoulou J, Lunke S, Stark Z, Fahey M
Cold Spring Harb Mol Case Stud 2022 Feb;8(2) Epub 2022 Mar 24 doi: 10.1101/mcs.a006193. PMID: 35165146Free PMC Article
Casanegra AI, Shepherd RF
Cardiol Clin 2021 Nov;39(4):583-599. doi: 10.1016/j.ccl.2021.06.010. PMID: 34686269
Choi E, Henkin S
Vasc Med 2021 Feb;26(1):56-70. doi: 10.1177/1358863X20983455. PMID: 33566754
Klein-Weigel PF, Volz TS, Richter JG
Vasa 2018 Feb;47(2):91-97. Epub 2018 Jan 4 doi: 10.1024/0301-1526/a000675. PMID: 29299961
Swiecicki PL, Hegerova LT, Gertz MA
Blood 2013 Aug 15;122(7):1114-21. Epub 2013 Jun 11 doi: 10.1182/blood-2013-02-474437. PMID: 23757733

Therapy

Middleton HT, Boswell CL, Houwink EJ, Allen-Rhoades WA, Kuhn AK, Wright JA
J Prim Care Community Health 2023 Jan-Dec;14:21501319231181879. doi: 10.1177/21501319231181879. PMID: 37335086Free PMC Article
Gelbenegger G, Berentsen S, Jilma B
Expert Opin Biol Ther 2023 May;23(5):395-406. Epub 2023 May 15 doi: 10.1080/14712598.2023.2209265. PMID: 37128907
Röth A, Berentsen S, Barcellini W, D'Sa S, Jilma B, Michel M, Weitz IC, Yamaguchi M, Nishimura JI, Vos JMI, Storek M, Wong N, Patel P, Jiang X, Vagge DS, Wardęcki M, Shafer F, Lee M, Broome CM
Blood 2022 Sep 1;140(9):980-991. doi: 10.1182/blood.2021014955. PMID: 35687757Free PMC Article
Sanghvi AR
Int J Dermatol 2020 Dec;59(12):1437-1449. Epub 2020 Oct 27 doi: 10.1111/ijd.15257. PMID: 33107038
Hall AH
Toxicol Lett 2002 Mar 10;128(1-3):69-72. doi: 10.1016/s0378-4274(01)00534-3. PMID: 11869818

Prognosis

Casanegra AI, Shepherd RF
Cardiol Clin 2021 Nov;39(4):583-599. doi: 10.1016/j.ccl.2021.06.010. PMID: 34686269
Klein-Weigel PF, Volz TS, Richter JG
Vasa 2018 Feb;47(2):91-97. Epub 2018 Jan 4 doi: 10.1024/0301-1526/a000675. PMID: 29299961
Cozzani E, Iurlo A, Merlo G, Cattaneo D, Burlando M, Pierri I, Gugliotta L, Parodi A
Clin Lymphoma Myeloma Leuk 2015 Dec;15(12):739-47. Epub 2015 Sep 3 doi: 10.1016/j.clml.2015.08.086. PMID: 26432058
Swiecicki PL, Hegerova LT, Gertz MA
Blood 2013 Aug 15;122(7):1114-21. Epub 2013 Jun 11 doi: 10.1182/blood-2013-02-474437. PMID: 23757733
Kurklinsky AK, Miller VM, Rooke TW
Vasc Med 2011 Aug;16(4):288-301. Epub 2011 Mar 22 doi: 10.1177/1358863X11398519. PMID: 21427140Free PMC Article

Clinical prediction guides

Röth A, Berentsen S, Barcellini W, D'Sa S, Jilma B, Michel M, Weitz IC, Yamaguchi M, Nishimura JI, Vos JMI, Storek M, Wong N, Patel P, Jiang X, Vagge DS, Wardęcki M, Shafer F, Lee M, Broome CM
Blood 2022 Sep 1;140(9):980-991. doi: 10.1182/blood.2021014955. PMID: 35687757Free PMC Article
Klein-Weigel PF, Volz TS, Richter JG
Vasa 2018 Feb;47(2):91-97. Epub 2018 Jan 4 doi: 10.1024/0301-1526/a000675. PMID: 29299961
Linnemann B, Erbe M
Vasa 2015 May;44(3):166-77. doi: 10.1024/0301-1526/a000426. PMID: 26098320
Kurklinsky AK, Miller VM, Rooke TW
Vasc Med 2011 Aug;16(4):288-301. Epub 2011 Mar 22 doi: 10.1177/1358863X11398519. PMID: 21427140Free PMC Article
Heidrich H
Vasa 2010 Feb;39(1):33-41. doi: 10.1024/0301-1526/a000003. PMID: 20186674

Recent systematic reviews

Marqueling AL, Oza V, Frieden IJ, Puttgen KB
Pediatr Dermatol 2013 Mar-Apr;30(2):182-91. Epub 2013 Feb 14 doi: 10.1111/pde.12089. PMID: 23405852

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