MCID: HSH001
MIFTS: 25

Hashimoto-Pritzker Syndrome

Categories: Blood diseases, Bone diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Hashimoto-Pritzker Syndrome

MalaCards integrated aliases for Hashimoto-Pritzker Syndrome:

Name: Hashimoto-Pritzker Syndrome 53 59 73
Congenital Langerhans Cell Histiocytosis 53 59
Hashimoto-Pritzker Histiocytosis 53
Hashimoto-Pritzker Disease 53

Characteristics:

Orphanet epidemiological data:

59
hashimoto-pritzker syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA99872
MESH via Orphanet 45 C535843
UMLS via Orphanet 74 C1275336
ICD10 via Orphanet 34 C96.5
UMLS 73 C1275336

Summaries for Hashimoto-Pritzker Syndrome

NIH Rare Diseases : 53 Hashimoto-Pritzker disease, also known as congenital self-healing reticulo-histiocytosis, is a very rare disease characterized by single or multiple red-purple or brown pimples (papules) and lumps (nodules) present at birth (congenital) or soon thereafter. Classic signs and symptoms include congenital or early development of painless papules, nodules or plaques with spontaneous regression in 2-3 months, and increase of a type of immune cells known as Langerhans cell histiocytes. Langerhans cells help regulate the immune system, and are normally found throughout the body. An excess of immature Langerhans cells usually form tumors called granulomas.  Most patients have multiple lesions, but in about 25% of cases there is only one lesion. Development of lesions in adulthood, recurrence of the disease, as well as lung and eye involvement, are very rare. Because usually the lesions cure by themselves, treatment is usually not necessary, although topical corticoids may be used for persistent lesions. It is considered as a benign, self-limited disorder, but long-term follow-up and a thorough evaluation for internal organ abnormalities is recommended. Hashimoto-Pritzker disease is one form (congenital self-healing variant) of Langerhans cell histiocytosis (LCH). The other forms include a severe, acute and disseminate form known as Letterer-Siwe disease, an intermediate chronic form with multiple lesions known as Hand-Schüller-Christian disease (characterized by diabetes insipidus, bulging of the eye and localized lesions in the bone) and a less severe disease known as eosinophilic granuloma, characterized by solitary or few, and chronic lesions of bone or other organs. Because all the variants have many common symptoms it is though that they may be manifestations of Langerhans cell histiocytosis and not separate syndromes.  

MalaCards based summary : Hashimoto-Pritzker Syndrome, also known as congenital langerhans cell histiocytosis, is related to langerhans cell histiocytosis and histiocytosis. An important gene associated with Hashimoto-Pritzker Syndrome is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase). Affiliated tissues include bone, lung and eye, and related phenotypes are nystagmus and retinopathy

Related Diseases for Hashimoto-Pritzker Syndrome

Diseases related to Hashimoto-Pritzker Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 langerhans cell histiocytosis 10.6
2 histiocytosis 10.6
3 histiocytoma 10.3
4 diffuse neonatal hemangiomatosis 10.0

Symptoms & Phenotypes for Hashimoto-Pritzker Syndrome

Human phenotypes related to Hashimoto-Pritzker Syndrome:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
2 retinopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000488
3 osteolysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002797
4 papule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200034
5 bronchogenic cyst 59 32 frequent (33%) Frequent (79-30%) HP:0100730
6 skin nodule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200036
7 hypomelanotic macules 59 Very frequent (99-80%)
8 hypomelanotic macule 32 hallmark (90%) HP:0009719

Drugs & Therapeutics for Hashimoto-Pritzker Syndrome

Search Clinical Trials , NIH Clinical Center for Hashimoto-Pritzker Syndrome

Genetic Tests for Hashimoto-Pritzker Syndrome

Anatomical Context for Hashimoto-Pritzker Syndrome

MalaCards organs/tissues related to Hashimoto-Pritzker Syndrome:

41
Bone, Lung, Eye, Skin, Testes, Lymph Node, Thymus

Publications for Hashimoto-Pritzker Syndrome

Articles related to Hashimoto-Pritzker Syndrome:

(show all 17)
# Title Authors Year
1
Congenital Langerhans cell histiocytosis presenting in a 27-week-gestation neonate. ( 29436047 )
2018
2
Systemic Congenital Langerhans Cell Histiocytosis Masquerading as Diffuse Neonatal Hemangiomatosis. ( 30129550 )
2018
3
Congenital Langerhans cell histiocytosis: a good prognosis disease? ( 29267442 )
2017
4
A case of congenital Langerhans cell histiocytosis with disseminated skin and pulmonary involvement masquerading as multiple infantile hemangiomas. ( 28552247 )
2017
5
A Fatal Case of Congenital Langerhans Cell Histiocytosis with Disseminated Cutaneous Lesions in a Premature Neonate. ( 27833773 )
2016
6
Suspected early onset of congenital Langerhans cell histiocytosis involving ectopic cervical thymus and mediastinal thymus, simultaneously. ( 25810002 )
2015
7
Congenital langerhans cell histiocytosis with placental involvement. ( 23432454 )
2013
8
Digestive Tract Symptoms in Congenital Langerhans Cell Histiocytosis: A Fatal Condition in an Illness Usually Considered Benign. ( 23823119 )
2013
9
Congenital Langerhans cell histiocytosis involving only one of non-identical twins. ( 21700531 )
2011
10
Congenital Langerhans cell histiocytosis with skin and lung involvement: spontaneous regression. ( 20589477 )
2010
11
Congenital Langerhans cell histiocytosis mimicking a "blueberry muffin baby". ( 18376291 )
2008
12
Fine needle aspiration diagnosis of congenital langerhans cell histiocytosis of the lymph nodes with isolated skin involvement. ( 15717770 )
2005
13
Congenital Langerhans cell histiocytosis: the self-healing variety. ( 15167357 )
2004
14
Congenital Langerhans cell histiocytosis with isolated skin involvement. ( 11466731 )
2001
15
Self-healing congenital Langerhans cell histiocytosis presenting as neonatal papulovesicular eruption. ( 11907857 )
2001
16
Congenital Langerhans cell histiocytosis: the utility of the Tzanck test as a diagnostic screening tool. ( 9722744 )
1998
17
Congenital Langerhans cell histiocytosis (histiocytosis X). ( 8490691 )
1993

Variations for Hashimoto-Pritzker Syndrome

Expression for Hashimoto-Pritzker Syndrome

Search GEO for disease gene expression data for Hashimoto-Pritzker Syndrome.

Pathways for Hashimoto-Pritzker Syndrome

GO Terms for Hashimoto-Pritzker Syndrome

Sources for Hashimoto-Pritzker Syndrome

3 CDC
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32 HPO
33 ICD10
34 ICD10 via Orphanet
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45 MESH via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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