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Hereditary mucoepithelial dysplasia(HMD)

MedGen UID:
220887
Concept ID:
C1274795
Congenital Abnormality
Synonyms: HMD; Urban-Schosser-Spohn syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: Hereditary mucoepithelial dysplasia (403442005)
 
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 (review by Boralevi et al., 2005). [from OMIM]

Clinical features

Hematuria
MedGen UID:
5488
Concept ID:
C0018965
Finding
A disorder characterized by laboratory test results that indicate blood in the urine.
Abnormality of female internal genitalia
MedGen UID:
424974
Concept ID:
CN000009
Finding
An abnormality of the female internal genitalia.
Gingival overgrowth
MedGen UID:
504394
Concept ID:
CN000205
Finding
Hyperplasia of the gingiva (FMA:59762, that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.
Furrowed tongue
MedGen UID:
504399
Concept ID:
CN000214
Finding
Accentuation of the grooves on the dorsal surface of the tongue.
Blindness
MedGen UID:
99138
Concept ID:
C0456909
Disease or Syndrome
The inability to see or the loss or absence of perception of visual stimuli. This condition may be the result of EYE DISEASES; OPTIC NERVE DISEASES; OPTIC CHIASM diseases; or BRAIN DISEASES affecting the VISUAL PATHWAYS or OCCIPITAL LOBE.
Opacification of the corneal stroma
MedGen UID:
347281
Concept ID:
C1856661
Finding
Cataract
MedGen UID:
368085
Concept ID:
C1962983
Finding
Nystagmus
MedGen UID:
409575
Concept ID:
C1963184
Finding
Esotropia
MedGen UID:
504499
Concept ID:
CN000530
Finding
A form of strabismus with one or both eyes turned inward ('crossed').
Photophobia
MedGen UID:
504524
Concept ID:
CN000575
Finding
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Keratoconjunctivitis
MedGen UID:
504724
Concept ID:
CN001029
Finding
Inflammation of the cornea and conjunctiva.
Corneal dystrophy
MedGen UID:
504738
Concept ID:
CN001063
Finding
An abnormality of the cornea that is characterized by opacity of one or parts of the cornea.
Corneal neovascularization
MedGen UID:
506578
Concept ID:
CN167224
Finding
Ingrowth of new blood vessels into the cornea.
Photophobia
MedGen UID:
504524
Concept ID:
CN000575
Finding
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Chronic diarrhea
MedGen UID:
505061
Concept ID:
CN001835
Finding
The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
Melena
MedGen UID:
505170
Concept ID:
CN002040
Finding
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., sotmach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.
Tracheoesophageal fistula
MedGen UID:
505275
Concept ID:
CN002337
Finding
An abnormal connection (fistula) between the esophagus and the trachea.
Alopecia
MedGen UID:
7982
Concept ID:
C0002170
Finding
You lose up to 100 hairs from your scalp every day. That's normal, and in most people, those hairs grow back. But many men -- and some women -- lose hair as they grow older. You can also lose your hair if you have certain diseases, such as thyroid problems, diabetes, or lupus. If you take certain medicines or have chemotherapy for cancer, you may also lose your hair. Other causes are stress, a low protein diet, a family history, or poor nutrition. . Treatment for hair loss depends on the cause. In some cases, treating the underlying cause will correct the problem. Other treatments include medicines and hair restoration. .
Fine hair
MedGen UID:
98401
Concept ID:
C0423867
Finding
Nail dysplasia
MedGen UID:
384044
Concept ID:
C1857047
Finding
Hyperkeratosis
MedGen UID:
504662
Concept ID:
CN000900
Finding
Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
Coarse hair
MedGen UID:
505157
Concept ID:
CN002002
Finding
Hair shafts are rough in texture.
Chronic mucocutaneous candidiasis
MedGen UID:
505337
Concept ID:
CN002478
Finding
Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails.
Chronic monilial nail infection
MedGen UID:
446924
Concept ID:
CN007386
Finding
Chronic infection of the nails by Candida species.
Nail dystrophy
MedGen UID:
506219
Concept ID:
CN007394
Finding
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.
Cor pulmonale
MedGen UID:
504890
Concept ID:
CN001501
Finding
Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle.
Melena
MedGen UID:
505170
Concept ID:
CN002040
Finding
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., sotmach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.
Eosinophilia
MedGen UID:
412195
Concept ID:
C2240374
Finding
A condition in which the number of eosinophils (a type of white blood cell) in the blood is greatly increased. Eosinophilia is often a response to infection or allergens (substances that cause an allergic response).
Melena
MedGen UID:
505170
Concept ID:
CN002040
Finding
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., sotmach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.
Hematuria
MedGen UID:
5488
Concept ID:
C0018965
Finding
A disorder characterized by laboratory test results that indicate blood in the urine.
Pneumonia
MedGen UID:
505095
Concept ID:
CN001891
Finding
Inflammation of any part of the lung parenchyma.
Pulmonary fibrosis
MedGen UID:
505156
Concept ID:
CN002000
Finding
Replacement of normal lung tissues are progressively replaced by fibroblasts and collagen.
Tracheoesophageal fistula
MedGen UID:
505275
Concept ID:
CN002337
Finding
An abnormal connection (fistula) between the esophagus and the trachea.
Recurrent pneumonia
MedGen UID:
505924
Concept ID:
CN005690
Finding
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Fibrocystic lung disease
MedGen UID:
425830
Concept ID:
CN005708
Finding
Eosinophilia
MedGen UID:
412195
Concept ID:
C2240374
Finding
A condition in which the number of eosinophils (a type of white blood cell) in the blood is greatly increased. Eosinophilia is often a response to infection or allergens (substances that cause an allergic response).
Chronic mucocutaneous candidiasis
MedGen UID:
505337
Concept ID:
CN002478
Finding
Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails.
Recurrent pneumonia
MedGen UID:
505924
Concept ID:
CN005690
Finding
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGHereditary mucoepithelial dysplasia

Recent clinical studies

Etiology

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

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
Warburg M, Ullman S, Jensen H, Pedersen H, Kobayashi T, Russell B, Tranebjaerg L, Richard G, Brøndum-Nielsen K
Am J Med Genet A 2006 Dec 15;140(24):2709-13. doi: 10.1002/ajmg.a.31543. PMID: 17103436
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. PMID: 8041653
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

Prognosis

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

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