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Bullous dystrophy, macular type(EBM; HBDM)

MedGen UID:
167089
Concept ID:
C0795974
Disease or Syndrome
Synonyms: Bullous dystrophy hereditary macular type; Epidermolysis bullosa macular type
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Monarch Initiative: MONDO:0010540
OMIM®: 302000
Orphanet: ORPHA1867

Definition

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). [from OMIM]

Clinical features

From HPO
Tapered finger
MedGen UID:
98098
Concept ID:
C0426886
Finding
The gradual reduction in girth of the finger from proximal to distal.
Short finger
MedGen UID:
334977
Concept ID:
C1844548
Anatomical Abnormality
Abnormally short finger associated with developmental hypoplasia.
Severe short stature
MedGen UID:
3931
Concept ID:
C0013336
Disease or Syndrome
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Hyperpigmentation of the skin
MedGen UID:
57992
Concept ID:
C0162834
Pathologic Function
A darkening of the skin related to an increase in melanin production and deposition.
Acrocyanosis
MedGen UID:
65138
Concept ID:
C0221347
Finding
Bluish discoloration of the skin of the hands or feet.
Alopecia totalis
MedGen UID:
75525
Concept ID:
C0263504
Disease or Syndrome
Loss of all scalp hair.
Abnormal nail morphology
MedGen UID:
163115
Concept ID:
C0853087
Anatomical Abnormality
Abnormal structure or appearance of the nail.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBullous dystrophy, macular type
Follow this link to review classifications for Bullous dystrophy, macular type in Orphanet.

Recent clinical studies

Diagnosis

Lungarotti MS, Martello C, Barboni G, Mezzetti D, Mariotti G, Calabro A
Am J Med Genet 1994 Jul 15;51(4):598-601. doi: 10.1002/ajmg.1320510460. PMID: 7943046

Clinical prediction guides

Lungarotti MS, Martello C, Barboni G, Mezzetti D, Mariotti G, Calabro A
Am J Med Genet 1994 Jul 15;51(4):598-601. doi: 10.1002/ajmg.1320510460. PMID: 7943046

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