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Mottled pigmentation

MedGen UID:
163653
Concept ID:
C0860439
Finding
Synonyms: Mottled skin coloring; Mottled skin colouring; Stippled pigmentation
 
HPO: HP:0001070

Definition

Patchy and irregular skin pigmentation. [from HPO]

Conditions with this feature

Mandibuloacral dysplasia with type B lipodystrophy
MedGen UID:
332940
Concept ID:
C1837756
Disease or Syndrome
Mandibuloacral dysplasia with type B lipodystrophy (MADB) is a rare autosomal recessive disorder characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. The lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities. Some patients have a progeroid appearance. Metabolic complications associated with insulin resistance have been reported (Schrander-Stumpel et al., 1992; summary by Simha et al., 2003). For a general phenotypic description of lipodystrophy associated with mandibuloacral dysplasia, see MADA (248370).
Rapadilino syndrome
MedGen UID:
336602
Concept ID:
C1849453
Disease or Syndrome
RAPADILINO syndrome is a rare condition that involves many parts of the body. Bone development is especially affected, causing many of the characteristic features of the condition.\n\nMost affected individuals have underdevelopment or absence of the bones in the forearms and the thumbs, which are known as radial ray malformations. The kneecaps (patellae) can also be underdeveloped or absent. Other features include an opening in the roof of the mouth (cleft palate) or a high arched palate; a long, slender nose; and dislocated joints.\n\nMany infants with RAPADILINO syndrome have difficulty feeding and experience diarrhea and vomiting. The combination of impaired bone development and feeding problems leads to slow growth and short stature in affected individuals.\n\nSome individuals with RAPADILINO syndrome have harmless light brown patches of skin that resemble a skin finding known as café-au-lait spots. In addition, people with RAPADILINO syndrome have a slightly increased risk of developing a type of bone cancer known as osteosarcoma or a blood-related cancer called lymphoma. In individuals with RAPADILINO syndrome, osteosarcoma most often develops during childhood or adolescence, and lymphoma typically develops in young adulthood.\n\nThe condition name is an acronym for the characteristic features of the disorder: RA for radial ray malformations, PA for patella and palate abnormalities, DI for diarrhea and dislocated joints, LI for limb abnormalities and little size, and NO for slender nose and normal intelligence.\n\nThe varied signs and symptoms of RAPADILINO syndrome overlap with features of other disorders, namely Baller-Gerold syndrome and Rothmund-Thomson syndrome. These syndromes are also characterized by radial ray defects, skeletal abnormalities, and slow growth. All of these conditions can be caused by mutations in the same gene. Based on these similarities, researchers are investigating whether Baller-Gerold syndrome, Rothmund-Thomson syndrome, and RAPADILINO syndrome are separate disorders or part of a single syndrome with overlapping signs and symptoms.
Mandibuloacral dysplasia with type A lipodystrophy
MedGen UID:
1757618
Concept ID:
C5399785
Disease or Syndrome
Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009). See also MAD type B (MADB; 608612), which is caused by mutation in the ZMPSTE24 gene (606480).
Inflammatory poikiloderma with hair abnormalities and acral keratoses
MedGen UID:
1824066
Concept ID:
C5774293
Disease or Syndrome
Inflammatory poikiloderma with hair abnormalities and acral keratoses (IPHAK) is characterized by mottled hyper- and hypopigmentation of the skin as well as sparse scalp hair and eyelashes, sparse or absent eyebrows, and palmoplantar keratoses (Han et al., 2022).

Professional guidelines

PubMed

Hitzert MM, van der Crabben SN, Baldewsingh G, van Amstel HKP, van den Wijngaard A, van Ravenswaaij-Arts CMA, Zijlmans CWR
Orphanet J Rare Dis 2019 Dec 19;14(1):294. doi: 10.1186/s13023-019-1269-0. PMID: 31856865Free PMC Article
Riahi RR, Bush AE, Cohen PR
Am J Clin Dermatol 2016 Jun;17(3):265-76. doi: 10.1007/s40257-016-0185-5. PMID: 26969582
Kang S, Fisher GJ, Voorhees JJ
Clin Geriatr Med 2001 Nov;17(4):643-59, v-vi. doi: 10.1016/s0749-0690(05)70091-4. PMID: 11535421

Recent clinical studies

Etiology

Hoffman L, Smeallie E, Ugonabo N, Chapas A
Lasers Surg Med 2024 Mar;56(3):233-238. Epub 2024 Feb 9 doi: 10.1002/lsm.23767. PMID: 38334165
Turcan I, Pasmooij AM, Van den Akker PC, Lemmink H, Sinke RJ, Jonkman MF
JAMA Dermatol 2016 Oct 1;152(10):1137-1141. doi: 10.1001/jamadermatol.2016.2268. PMID: 27384765
Won KH, Lee SH, Lee MH, Rhee DY, Yeo UC, Chang SE
J Cosmet Laser Ther 2016 Nov;18(7):381-386. Epub 2016 Jul 19 doi: 10.1080/14764172.2016.1191645. PMID: 27249461
Riahi RR, Bush AE, Cohen PR
Am J Clin Dermatol 2016 Jun;17(3):265-76. doi: 10.1007/s40257-016-0185-5. PMID: 26969582
Corden LD, McLean WH
Exp Dermatol 1996 Dec;5(6):297-307. doi: 10.1111/j.1600-0625.1996.tb00133.x. PMID: 9028791

Diagnosis

Rayinda T, van Steensel M, Danarti R
Int J Dermatol 2021 Nov;60(11):1343-1353. Epub 2021 Mar 19 doi: 10.1111/ijd.15498. PMID: 33739439
Nofal A, Salah E
J Am Acad Dermatol 2013 Sep;69(3):e129-40. Epub 2012 Jul 28 doi: 10.1016/j.jaad.2012.06.015. PMID: 22846690
Kumar P, Sharma PK, Gautam RK, Jain RK, Kar HK
Int J Dermatol 2007 May;46(5):492-3. doi: 10.1111/j.1365-4632.2007.03248.x. PMID: 17472679
Lautenschlager S, Itin PH
Dermatology 1998;197(3):291-6. doi: 10.1159/000018016. PMID: 9812039
Itin PH, Lautenschlager S
Dermatology 1998;197(3):281-90. doi: 10.1159/000018015. PMID: 9812038

Therapy

Lv J, Yang S, Lv M, Lv J, Sui Y, Guo S
Tissue Cell 2022 Jun;76:101746. Epub 2022 Jan 29 doi: 10.1016/j.tice.2022.101746. PMID: 35182986
Alam M, Hughart R, Champlain A, Geisler A, Paghdal K, Whiting D, Hammel JA, Maisel A, Rapcan MJ, West DP, Poon E
JAMA Dermatol 2018 Dec 1;154(12):1447-1452. doi: 10.1001/jamadermatol.2018.3977. PMID: 30419125Free PMC Article
Riahi RR, Bush AE, Cohen PR
Am J Clin Dermatol 2016 Jun;17(3):265-76. doi: 10.1007/s40257-016-0185-5. PMID: 26969582
Farris PK
Semin Cutan Med Surg 2011 Sep;30(3):163-6. doi: 10.1016/j.sder.2011.05.004. PMID: 21925370
Kondo S
J Dermatol Sci 2000 Mar;23 Suppl 1:S30-6. doi: 10.1016/s0923-1811(99)00076-6. PMID: 10764989

Prognosis

Hoffman L, Smeallie E, Ugonabo N, Chapas A
Lasers Surg Med 2024 Mar;56(3):233-238. Epub 2024 Feb 9 doi: 10.1002/lsm.23767. PMID: 38334165
Colombo EA, Valiante M, Uggeri M, Orro A, Majore S, Grammatico P, Gentilini D, Finelli P, Gervasini C, D'Ursi P, Larizza L
Int J Mol Sci 2023 Feb 16;24(4) doi: 10.3390/ijms24044028. PMID: 36835439Free PMC Article
Rayinda T, van Steensel M, Danarti R
Int J Dermatol 2021 Nov;60(11):1343-1353. Epub 2021 Mar 19 doi: 10.1111/ijd.15498. PMID: 33739439
Bruce S
J Drugs Dermatol 2013 Mar;12(3):S27-31. PMID: 23545930
Kondo S
J Dermatol Sci 2000 Mar;23 Suppl 1:S30-6. doi: 10.1016/s0923-1811(99)00076-6. PMID: 10764989

Clinical prediction guides

Hoffman L, Smeallie E, Ugonabo N, Chapas A
Lasers Surg Med 2024 Mar;56(3):233-238. Epub 2024 Feb 9 doi: 10.1002/lsm.23767. PMID: 38334165
Colombo EA, Valiante M, Uggeri M, Orro A, Majore S, Grammatico P, Gentilini D, Finelli P, Gervasini C, D'Ursi P, Larizza L
Int J Mol Sci 2023 Feb 16;24(4) doi: 10.3390/ijms24044028. PMID: 36835439Free PMC Article
Pezzini C, Ciardo S, Guida S, Kaleci S, Chester J, Casari A, Manfredini M, Longo C, Farnetani F, Brugués AO, Pellacani G
Exp Dermatol 2023 Apr;32(4):348-358. Epub 2022 Nov 26 doi: 10.1111/exd.14708. PMID: 36394180
Alam M, Hughart R, Champlain A, Geisler A, Paghdal K, Whiting D, Hammel JA, Maisel A, Rapcan MJ, West DP, Poon E
JAMA Dermatol 2018 Dec 1;154(12):1447-1452. doi: 10.1001/jamadermatol.2018.3977. PMID: 30419125Free PMC Article
Kumar P, Sharma PK, Gautam RK, Jain RK, Kar HK
Int J Dermatol 2007 May;46(5):492-3. doi: 10.1111/j.1365-4632.2007.03248.x. PMID: 17472679

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