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Spotty hyperpigmentation

MedGen UID:
Concept ID:
Synonym: Patchy hyperpigmentation
HPO: HP:0005585

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpotty hyperpigmentation

Conditions with this feature

Kindler syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Kindler syndrome (KS), a rare subtype of inherited epidermolysis bullosa, is characterized by skin fragility and acral blister formation beginning at birth, diffuse cutaneous atrophy, photosensitivity (most prominent during childhood and usually decreasing after adolescence), poikiloderma, diffuse palmoplantar hyperkeratosis, and pseudosyndactyly. Mucosal manifestations are also common and include hemorrhagic mucositis and gingivitis, periodontal disease, premature loss of teeth, and labial leukokeratosis. Other mucosal findings can include ectropion, urethral stenosis, and severe phimosis. Severe long-term complications of KS include periodontitis, mucosal strictures, and aggressive squamous cell carcinomas. Manifestations can range from mild to severe.
Ermine phenotype
MedGen UID:
Concept ID:
Disease or Syndrome
A rare deafness characterized by the association of bilateral sensorineural hearing loss and white hair with scattered black tufts, as well as skin areas of hyper- and hypopigmentation. Additional reported features include global developmental delay and moderate intellectual disability, growth retardation, microcephaly, hypotonia, mild dysmorphic facial features (deeply set eyes, broad nasal bridge, slight bowing of the upper lip), retinal depigmentation, anomalies of the fingers and toes, and white matter abnormalities on brain imaging.
Nestor-Guillermo progeria syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Nestor-Guillermo progeria syndrome (NGPS) is an autosomal recessive disorder characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life. Onset is after 2 years of age, and lifespan is relatively long (summary by Cabanillas et al., 2011).
Rothmund-Thomson syndrome, type 3
MedGen UID:
Concept ID:
Disease or Syndrome
Rothmund-Thomson syndrome type 3 (RTS3) is characterized by poikiloderma, sparse hair, short stature, and skeletal defects. Patients also exhibit microcephaly, with moderate to severe neurodevelopmental delay and seizures (Averdunk et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of Rothmund-Thomson syndrome, see RTS2 (268400).

Professional guidelines

Recent clinical studies

Clinical prediction guides

Saari KM
Int Ophthalmol 1986 Apr;9(1):45-60. doi: 10.1007/BF00225938. PMID: 3721711

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