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Hereditary mucoepithelial dysplasia(HMD)

MedGen UID:
220887
Concept ID:
C1274795
Congenital Abnormality
Synonyms: HMD; Urban-Schosser-Spohn syndrome
SNOMED CT: Hereditary mucoepithelial dysplasia (403442005)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): SREBF1 (17p11.2)
 
Monarch Initiative: MONDO:0008017
OMIM®: 158310
Orphanet: ORPHA1839

Definition

Hereditary mucoepithelial dysplasia (HMD) is a rare autosomal dominant genodermatosis characterized by onset in infancy of a panepithelial defect involving the oral, nasal, conjunctival, vaginal, cervical, perineal, urethral, and bladder mucosa. Patients develop cataracts, blindness, nonscarring alopecia, perineal psoriasiform lesions, and follicular keratoses (Witkop et al., 1982). Although 1 family was reported to have progressive severe interstitial lung disease (Witkop et al., 1979), this feature has not been reported in other families and is not considered a criterion for diagnosis. However, the clinical triad of nonscarring alopecia, well-demarcated fiery red mucosa, and psoriasiform perineal involvement has been consistently observed (review by Boralevi et al., 2005). [from OMIM]

Clinical features

From HPO
Hematuria
MedGen UID:
5488
Concept ID:
C0018965
Disease or Syndrome
The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).
Cor pulmonale
MedGen UID:
18765
Concept ID:
C0034072
Disease or Syndrome
Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle.
Melena
MedGen UID:
7523
Concept ID:
C0025222
Pathologic Function
The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.
Chronic diarrhea
MedGen UID:
96036
Concept ID:
C0401151
Finding
The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Recurrent pneumonia
MedGen UID:
195802
Concept ID:
C0694550
Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Rhinorrhea
MedGen UID:
226777
Concept ID:
C1260880
Sign or Symptom
Increased discharge of mucus from the nose.
Fibrocystic lung disease
MedGen UID:
853254
Concept ID:
C1397290
Disease or Syndrome
Chronic mucocutaneous candidiasis
MedGen UID:
2426
Concept ID:
C0006845
Disease or Syndrome
Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails.
Eosinophilia
MedGen UID:
41824
Concept ID:
C0014457
Disease or Syndrome
Increased count of eosinophils in the blood.
Keratoconjunctivitis
MedGen UID:
44014
Concept ID:
C0022573
Disease or Syndrome
Inflammation of the cornea and conjunctiva.
Pneumonia
MedGen UID:
10813
Concept ID:
C0032285
Disease or Syndrome
Inflammation of any part of the lung parenchyma.
Furrowed tongue
MedGen UID:
21583
Concept ID:
C0040412
Anatomical Abnormality
Accentuation of the grooves on the dorsal surface of the tongue.
Erythematous oral mucosa
MedGen UID:
536975
Concept ID:
C0240369
Finding
An erythematous lesion of the oral mucosa may result from a variety of tissue alterations, including inflammation, erythrocyte extravasation, and atrophy or reduced keratinization of the surface epithelium.
Alopecia
MedGen UID:
7982
Concept ID:
C0002170
Finding
A noncongenital process of hair loss, which may progress to partial or complete baldness.
Nail dystrophy
MedGen UID:
66368
Concept ID:
C0221260
Disease or Syndrome
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
Keratosis pilaris
MedGen UID:
82664
Concept ID:
C0263383
Disease or Syndrome
An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs.
Coarse hair
MedGen UID:
124454
Concept ID:
C0277959
Finding
Hair shafts are rough in texture.
Phrynoderma
MedGen UID:
83101
Concept ID:
C0334013
Disease or Syndrome
A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.
Nail dysplasia
MedGen UID:
331737
Concept ID:
C1834405
Congenital Abnormality
The presence of developmental dysplasia of the nail.
Chronic monilial nail infection
MedGen UID:
870245
Concept ID:
C4024683
Pathologic Function
Chronic infection of the nails by Candida species.
Sparse hair
MedGen UID:
1790211
Concept ID:
C5551005
Finding
Reduced density of hairs.
Esotropia
MedGen UID:
4550
Concept ID:
C0014877
Disease or Syndrome
A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Corneal neovascularization
MedGen UID:
43103
Concept ID:
C0085109
Disease or Syndrome
Ingrowth of new blood vessels into the cornea.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Epiphora
MedGen UID:
57518
Concept ID:
C0152227
Disease or Syndrome
Abnormally increased lacrimation, that is, excessive tearing (watering eye).
Opacification of the corneal stroma
MedGen UID:
602191
Concept ID:
C0423250
Finding
Reduced transparency of the stroma of cornea.
Blindness
MedGen UID:
99138
Concept ID:
C0456909
Disease or Syndrome
Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary mucoepithelial dysplasia
Follow this link to review classifications for Hereditary mucoepithelial dysplasia in Orphanet.

Recent clinical studies

Etiology

Chacon-Camacho OF, Arce-Gonzalez R, Ordaz-Robles T, Perezpeña-Diazconti M, Nava-Castañeda A, Zenteno JC
Am J Med Genet A 2020 Nov;182(11):2773-2777. Epub 2020 Sep 9 doi: 10.1002/ajmg.a.61849. PMID: 32902915
Zlotogorski Hurvitz A, Zadik Y, Gillman L, Platner O, Shani T, Goldman Y, Chaushu G, Kaplan I, Barzilai A, Astman N, Reiter S, Vered M
Head Neck Pathol 2020 Dec;14(4):1111-1116. Epub 2020 Jan 27 doi: 10.1007/s12105-020-01127-1. PMID: 31989432Free PMC Article
Avadhanam VS, Khaw PT, Martin KR
J Pediatr Ophthalmol Strabismus 2010 Nov 23;47 Online:e1-4. doi: 10.3928/01913913-20101118-02. PMID: 21117525

Diagnosis

Kim S, Jeong H, Ko JM, Kwon O, Oh JY
Cornea 2023 Dec 1;42(12):1586-1589. Epub 2023 Sep 12 doi: 10.1097/ICO.0000000000003381. PMID: 37699567
Irurzun I, Natale MI, Agostinelli ML, Lamberti M, Montero D, Granda C, Mássimo JA, Manzur GB, Valinotto LE
Pediatr Dermatol 2021 May;38(3):568-574. Epub 2021 Mar 19 doi: 10.1111/pde.14560. PMID: 33742461
Avadhanam VS, Khaw PT, Martin KR
J Pediatr Ophthalmol Strabismus 2010 Nov 23;47 Online:e1-4. doi: 10.3928/01913913-20101118-02. PMID: 21117525
Boralevi F, Haftek M, Vabres P, Lepreux S, Goizet C, Leaute-Labreze C, Taieb A
Br J Dermatol 2005 Aug;153(2):310-8. doi: 10.1111/j.1365-2133.2005.06664.x. PMID: 16086741
Rogers M, Kourt G, Cameron A
Pediatr Dermatol 1994 Jun;11(2):133-8. doi: 10.1111/j.1525-1470.1994.tb00567.x. PMID: 8041653

Prognosis

Kulkarni T, de Andrade J, Zhou Y, Luckhardt T, Thannickal VJ
Am J Physiol Lung Cell Mol Physiol 2016 Aug 1;311(2):L185-91. Epub 2016 May 27 doi: 10.1152/ajplung.00115.2016. PMID: 27233996Free PMC Article
Avadhanam VS, Khaw PT, Martin KR
J Pediatr Ophthalmol Strabismus 2010 Nov 23;47 Online:e1-4. doi: 10.3928/01913913-20101118-02. PMID: 21117525
Urban MD, Schosser R, Spohn W, Wentling WO, Robinow M
Am J Med Genet 1991 Jun 1;39(3):338-41. doi: 10.1002/ajmg.1320390318. PMID: 1867287

Clinical prediction guides

Zlotogorski Hurvitz A, Zadik Y, Gillman L, Platner O, Shani T, Goldman Y, Chaushu G, Kaplan I, Barzilai A, Astman N, Reiter S, Vered M
Head Neck Pathol 2020 Dec;14(4):1111-1116. Epub 2020 Jan 27 doi: 10.1007/s12105-020-01127-1. PMID: 31989432Free PMC Article
Kulkarni T, de Andrade J, Zhou Y, Luckhardt T, Thannickal VJ
Am J Physiol Lung Cell Mol Physiol 2016 Aug 1;311(2):L185-91. Epub 2016 May 27 doi: 10.1152/ajplung.00115.2016. PMID: 27233996Free PMC Article

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