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Primary pigmented nodular adrenocortical disease

MedGen UID:: 930501
•Concept ID:: C4304832
•: Disease or Syndrome

Synonyms:	pigmented nodular adrenocortical disease; pigmented nodular adrenocortical disease, primary; PPNAD; Primary pigmented nodular adrenal dysplasia; primary pigmented nodular adrenal dysplasia; primary pigmented nodular adrenocortical disease
SNOMED CT:	Primary pigmented nodular adrenocortical disease (719274008)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0015999
OMIM® Phenotypic series:	PS610489
Orphanet:	ORPHA189439

Definition

Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone independent Cushing syndrome. The disease has characteristics of small to normal sized adrenal glands containing multiple small cortical pigmented nodules. A substantial proportion of patients present during early childhood (2-3 years). More than 90% of reported cases of PPNAD occur as one of the manifestations of Carney complex. The condition is inherited in an autosomal dominant manner and can be associated with mutations in the PRKAR1A, PDE11A and PDE8B genes. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCushing syndrome
- CROGVACTH-dependent Cushing syndrome
  - CROGVEctopic Cushing syndrome
  - CROGVPituitary dependent hypercortisolism
- CROGVACTH-independent Cushing syndrome
  - Cushing syndrome due to macronodular adrenal hyperplasia
    - CROGVACTH-independent macronodular adrenal hyperplasia 1
    - CROGVACTH-independent macronodular adrenal hyperplasia 2
  - CROGVPrimary pigmented nodular adrenocortical disease

Disease
- Disorder by Site
  - Disorder of endocrine system
    - Endocrine Syndrome
      - Cushing syndrome
        ACTH-independent Cushing syndrome
        Primary pigmented nodular adrenocortical disease

Professional guidelines

PubMed

Treatment of Primary Pigmented Nodular Adrenocortical Disease.

Liu X, Zhang S, Guo Y, Gang X, Wang G
Horm Metab Res 2022 Nov;54(11):721-730. Epub 2022 Sep 21 doi: 10.1055/a-1948-6990. PMID: 36130700 Free PMC Article

MANAGEMENT OF ENDOCRINE DISEASE: Carney complex: clinical and genetic update 20 years after the identification of the CNC1 (PRKAR1A) gene.

Bouys L, Bertherat J
Eur J Endocrinol 2021 Mar;184(3):R99-R109. doi: 10.1530/EJE-20-1120. PMID: 33444222

Surgical management of Cushing's syndrome.

Imai T, Kikumori T, Funahashi H, Nakao A
Biomed Pharmacother 2000 Jun;54 Suppl 1:140s-145s. doi: 10.1016/s0753-3322(00)80031-1. PMID: 10915011

See all (8)

Recent clinical studies

Etiology

Update on primary micronodular bilateral adrenocortical diseases.

Maillet M, Bourdeau I, Lacroix A
Curr Opin Endocrinol Diabetes Obes 2020 Jun;27(3):132-139. doi: 10.1097/MED.0000000000000538. PMID: 32209819

Adrenalectomy for non-neuroblastic pathology in children.

Traynor MD Jr, Sada A, Thompson GB, Moir CR, Bancos I, Farley DR, Dy BM, Lyden ML, Habermann EB, McKenzie TJ
Pediatr Surg Int 2020 Feb;36(2):129-135. Epub 2019 Nov 5 doi: 10.1007/s00383-019-04589-9. PMID: 31691026

Primary pigmented nodular adrenocortical disease (PPNAD): single centre experience.

Memon SS, Thakkar K, Patil V, Jadhav S, Lila AR, Fernandes G, Bandgar TR, Shah NS
J Pediatr Endocrinol Metab 2019 Apr 24;32(4):391-397. doi: 10.1515/jpem-2018-0413. PMID: 30875328

Failure to Thrive in the Context of Carney Complex.

Tirosh A, Auerbach A, Bonella B, Zavras PD, Belyavskaya E, Lyssikatos C, Meir K, Weiss R, Daum H, Lodish MB, Gillis D, Stratakis CA
Horm Res Paediatr 2018;89(1):38-46. Epub 2017 Nov 21 doi: 10.1159/000484690. PMID: 29161691

Medical and Surgical Management of Carney Complex.

Siordia JA
J Card Surg 2015 Jul;30(7):560-7. Epub 2015 May 21 doi: 10.1111/jocs.12575. PMID: 25996461

See all (41)

Diagnosis

Cushing Syndrome in Childhood.

Parish A, Cheung C, Ryabets-Lienhard A, Zamiara P, Kim MS
Pediatr Rev 2024 Jan 1;45(1):14-25. doi: 10.1542/pir.2022-005732. PMID: 38161162

Adrenocortical hyperplasia: A multifaceted disease.

Bourdeau I, Parisien-La Salle S, Lacroix A
Best Pract Res Clin Endocrinol Metab 2020 May;34(3):101386. Epub 2020 Feb 4 doi: 10.1016/j.beem.2020.101386. PMID: 32115357

Primary pigmented nodular adrenocortical disease (PPNAD): single centre experience.

Memon SS, Thakkar K, Patil V, Jadhav S, Lila AR, Fernandes G, Bandgar TR, Shah NS
J Pediatr Endocrinol Metab 2019 Apr 24;32(4):391-397. doi: 10.1515/jpem-2018-0413. PMID: 30875328

Carney complex review: Genetic features.

Bosco Schamun MB, Correa R, Graffigna P, de Miguel V, Fainstein Day P
Endocrinol Diabetes Nutr (Engl Ed) 2018 Jan;65(1):52-59. Epub 2017 Nov 20 doi: 10.1016/j.endinu.2017.09.006. PMID: 29162369

Rare syndromes.

Jabbour SA, Davidovici BB, Wolf R
Clin Dermatol 2006 Jul-Aug;24(4):299-316. doi: 10.1016/j.clindermatol.2006.04.005. PMID: 16828412

See all (98)

Therapy

Germline PRKACA amplification-associated primary pigmented nodular adrenocortical disease: a case report and literature review.

Yang WR, Liang XH, Qin YF, Yang HY, He SZ, Huang ZX, Liu YP, Luo ZJ
Arch Endocrinol Metab 2023 Nov 17;68:e220491. doi: 10.20945/2359-4292-2022-0491. PMID: 37988664 Free PMC Article

c-KIT oncogene expression in PRKAR1A-mutant adrenal cortex.

Nadella K, Faucz FR, Stratakis CA
Endocr Relat Cancer 2020 Oct;27(10):591-599. doi: 10.1530/ERC-20-0270. PMID: 32738126 Free PMC Article

Update on primary micronodular bilateral adrenocortical diseases.

Maillet M, Bourdeau I, Lacroix A
Curr Opin Endocrinol Diabetes Obes 2020 Jun;27(3):132-139. doi: 10.1097/MED.0000000000000538. PMID: 32209819

Primary pigmented nodular adrenocortical disease (PPNAD): single centre experience.

Memon SS, Thakkar K, Patil V, Jadhav S, Lila AR, Fernandes G, Bandgar TR, Shah NS
J Pediatr Endocrinol Metab 2019 Apr 24;32(4):391-397. doi: 10.1515/jpem-2018-0413. PMID: 30875328

Molecular genetics of adrenocortical tumor formation and potential pharmacologic targets.

Rauschecker M, Stratakis CA
Minerva Endocrinol 2012 Jun;37(2):133-9. PMID: 22691887 Free PMC Article

See all (19)

Prognosis

Update of Genetic and Molecular Causes of Adrenocortical Hyperplasias Causing Cushing Syndrome.

Berthon A, Bertherat J
Horm Metab Res 2020 Aug;52(8):598-606. Epub 2020 Feb 25 doi: 10.1055/a-1061-7349. PMID: 32097969

Primary pigmented nodular adrenocortical disease (PPNAD): single centre experience.

Memon SS, Thakkar K, Patil V, Jadhav S, Lila AR, Fernandes G, Bandgar TR, Shah NS
J Pediatr Endocrinol Metab 2019 Apr 24;32(4):391-397. doi: 10.1515/jpem-2018-0413. PMID: 30875328

Primary pigmented nodular adrenocortical disease: literature review and case report of a 6-year-old boy.

Katanić D, Kafka D, Živojinov M, Vlaški J, Budakov Z, Knežević Pogančev M, Vorgučin I, Ćuk T
J Pediatr Endocrinol Metab 2017 May 1;30(5):603-609. doi: 10.1515/jpem-2016-0249. PMID: 28391254

Medical and Surgical Management of Carney Complex.

Siordia JA
J Card Surg 2015 Jul;30(7):560-7. Epub 2015 May 21 doi: 10.1111/jocs.12575. PMID: 25996461

Adrenocorticotropic hormone-independent Cushing's syndrome.

Bourdeau I, Lampron A, Costa MH, Tadjine M, Lacroix A
Curr Opin Endocrinol Diabetes Obes 2007 Jun;14(3):219-25. doi: 10.1097/MED.0b013e32814db842. PMID: 17940443

See all (40)