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Hypomelanotic macule

MedGen UID:
869790
Concept ID:
C4024220
Finding
Synonym: Hypomelanotic macules
 
HPO: HP:0009719

Definition

Hypomelanotic macules ("ash leaf spots") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypomelanotic macule

Conditions with this feature

Tuberous sclerosis 1
MedGen UID:
344288
Concept ID:
C1854465
Disease or Syndrome
Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability / developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death.
Tuberous sclerosis 2
MedGen UID:
348170
Concept ID:
C1860707
Disease or Syndrome
Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability / developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death.
Dowling-Degos disease 2
MedGen UID:
815477
Concept ID:
C3809147
Disease or Syndrome
Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by reticular pigmentation, usually in a flexural distribution. However, generalized DDD can also occur, with numerous hypopigmented or erythematous macules and papules on the neck, chest, and abdomen. The histopathology of DDD shows characteristic thin branch-like patterns of epidermal downgrowth (summary by Li et al., 2013). Review of Reticulate Pigment Disorders Muller et al. (2012) reviewed the spectrum of reticulate pigment disorders of the skin, tabulating all reported cases of patients with Dowling-Degos disease, reticulate acropigmentation of Kitamura (RAK), reticulate acropigmentation of Dohi (DSH, RAD; 127400), Galli-Galli disease (GGD), and Haber syndrome (HS). Of 82 cases, 26 (31.7%) were clinically diagnosed as DDD, 13 (15.9%) as RAD, 11 (13.4%) as GGD, 8 (9.8%) as RAK, and 8 (9.8%) as HS; in addition, 16 (19.5%) of the cases showed overlap between DDD and RAK. Muller et al. (2012) also published photographs of an affected individual exhibiting an overlap of clinical features of DDD, GGD, RAD, and RAK. The authors noted that in reticulate disorders of the skin, the main disease entity is DDD, with a subset of cases exhibiting acantholysis (GGD), facial erythema (HS), or an acral distribution (RAD; RAK). Muller et al. (2012) concluded that all reticulate pigment diseases of the skin are varying manifestations of a single entity. For a discussion of genetic heterogeneity of reticulate pigment disorders, see 179850.
Bone marrow failure syndrome 3
MedGen UID:
934711
Concept ID:
C4310744
Disease or Syndrome
Bone marrow failure syndrome-3 is an autosomal recessive disorder characterized by onset of pancytopenia in early childhood. Patients may have additional variable nonspecific somatic abnormalities, including poor growth, microcephaly, and skin anomalies (summary by Tummala et al., 2016). BMFS3 has a distinct phenotype and may include features that overlap with Shwachman-Diamond syndrome (SDS1; 260400), such as pancreatic insufficiency and short stature, and with dyskeratosis congenita (see, e.g., DKCA1, 127550), such as dental and hair abnormalities and shortened telomeres. In addition, some patients may have joint and skeletal abnormalities, impaired development, and retinal dysplasia (summary by D'Amours et al., 2018). For a discussion of genetic heterogeneity of BMFS, see BMFS1 (614675).
Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma
MedGen UID:
1678330
Concept ID:
C5193062
Disease or Syndrome
CAPOK syndrome (CAPOK) is characterized by onset of symptoms in the first year of life, with the development of progressive alopecia, hypo- and hyperpigmented macular skin lesions, palmoplantar keratoderma, and nail dystrophy. Beginning in the third decade of life, patients develop recurrent squamous cell carcinomas. Some patients may have brittle teeth resulting in tooth loss, and multinodular goiter has been observed (Courcet et al., 2015).

Professional guidelines

PubMed

Farges D, Sigg N, Ville D, Martin L
Arch Pediatr 2022 Dec;29(5S):5S20-5S24. doi: 10.1016/S0929-693X(22)00286-X. PMID: 36585067
Boronat S, Shaaya EA, Doherty CM, Caruso P, Thiele EA
Clin Genet 2014 Aug;86(2):149-54. Epub 2013 Aug 27 doi: 10.1111/cge.12245. PMID: 23909698
Au KS, Williams AT, Roach ES, Batchelor L, Sparagana SP, Delgado MR, Wheless JW, Baumgartner JE, Roa BB, Wilson CM, Smith-Knuppel TK, Cheung MY, Whittemore VH, King TM, Northrup H
Genet Med 2007 Feb;9(2):88-100. doi: 10.1097/gim.0b013e31803068c7. PMID: 17304050

Recent clinical studies

Etiology

Takahashi A, Hattori S, Sakai E, Yang L, Katayama I, Fujimoto M, Wataya-Kaneda M
J Am Acad Dermatol 2022 Jul;87(1):237-240. Epub 2021 Aug 8 doi: 10.1016/j.jaad.2021.07.071. PMID: 34375666
Westerhof W, Dingemans KP, Hulsmans RF
Br J Dermatol 2004 Sep;151(3):701-5. doi: 10.1111/j.1365-2133.2004.06126.x. PMID: 15377363

Diagnosis

Kansal NK
Skinmed 2019;17(2):100-104. Epub 2019 May 29 PMID: 31145059
Zheng LQ, Huang Y, Han XC
J Cutan Pathol 2013 May;40(5):509-12. Epub 2013 Feb 19 doi: 10.1111/cup.12103. PMID: 23418925
Ramantani G, Niggemann P, Hahn G, Näke A, Fahsold R, Lee-Kirsch MA
J Child Neurol 2009 Mar;24(3):333-7. doi: 10.1177/0883073808323021. PMID: 19258292
Westerhof W, Dingemans KP, Hulsmans RF
Br J Dermatol 2004 Sep;151(3):701-5. doi: 10.1111/j.1365-2133.2004.06126.x. PMID: 15377363

Clinical prediction guides

Møller LB, Schönewolf-Greulich B, Rosengren T, Larsen LJ, Ostergaard JR, Sommerlund M, Ostenfeldt C, Stausbøl-Grøn B, Linnet KM, Gregersen PA, Jensen UB
Mol Genet Metab 2017 Apr;120(4):384-391. Epub 2017 Mar 1 doi: 10.1016/j.ymgme.2017.02.008. PMID: 28336152

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