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Cutis laxa, autosomal dominant 2(ADCL2)

MedGen UID:
482424
•Concept ID:
C3280794
•
Disease or Syndrome
Synonym: ADCL2
 
Gene (location): FBLN5 (14q32.12)
 
Monarch Initiative: MONDO:0013751
OMIM®: 614434

Disease characteristics

Excerpted from the GeneReview: FBLN5-Related Cutis Laxa
FBLN5-related cutis laxa is characterized by cutis laxa, early childhood-onset pulmonary emphysema, peripheral pulmonary artery stenosis, and other evidence of a generalized connective disorder such as inguinal hernias and hollow viscus diverticula (e.g., intestine, bladder). Occasionally, supravalvar aortic stenosis is observed. Intrafamilial variability in age of onset is observed. Cardiorespiratory failure from complications of pulmonary emphysema (respiratory or cardiac insufficiency) is the most common cause of death. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  Chapter Notes  |  References
Authors:
Lionel Van Maldergem  |  Bart Loeys   view full author information

Additional description

From OMIM
Cutis laxa is a connective tissue disorder characterized by loose skin and variable internal organ involvement resulting from a paucity of elastic fibers (summary by Markova et al., 2003). For a complete phenotypic description and a discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ADCL1 (123700).  http://www.omim.org/entry/614434

Clinical features

From HPO
Mitral regurgitation
MedGen UID:
7670
•Concept ID:
C0026266
•
Disease or Syndrome
An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.
See: Feature record | Search on this feature
Scoliosis
MedGen UID:
11348
•Concept ID:
C0036439
•
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
See: Feature record | Search on this feature
Cutis laxa
MedGen UID:
8206
•Concept ID:
C0010495
•
Disease or Syndrome
Wrinkled, redundant, inelastic and sagging skin.
See: Feature record | Search on this feature
Premature skin wrinkling
MedGen UID:
19996
•Concept ID:
C0037301
•
Finding
The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

The first Japanese case of autosomal dominant cutis laxa with a frameshift mutation in exon 30 of the elastin gene complicated by small airway disease with 8 years of follow-up.
Kaji M, Namkoong H, Chubachi S, Tanaka H, Asakura T, Haraguchi Hashiguchi M, Yamada M, Uehara T, Suzuki H, Tanabe N, Yamada Y, Nozaki T, Ouchi T, Tsuji A, Kosaki K, Hasegawa N, Fukunaga K
BMC Pulm Med 2024 Oct 1;24(1):481. doi: 10.1186/s12890-024-03290-5. PMID: 39354494Free PMC Article
The differential symptomatology of errors of collagen metabolism: a tentative classification.
Maroteaux P, Frézal J, Cohen-Solal L
Am J Med Genet 1986 Jun;24(2):219-30. doi: 10.1002/ajmg.1320240203. PMID: 3717207

Diagnosis

The first Japanese case of autosomal dominant cutis laxa with a frameshift mutation in exon 30 of the elastin gene complicated by small airway disease with 8 years of follow-up.
Kaji M, Namkoong H, Chubachi S, Tanaka H, Asakura T, Haraguchi Hashiguchi M, Yamada M, Uehara T, Suzuki H, Tanabe N, Yamada Y, Nozaki T, Ouchi T, Tsuji A, Kosaki K, Hasegawa N, Fukunaga K
BMC Pulm Med 2024 Oct 1;24(1):481. doi: 10.1186/s12890-024-03290-5. PMID: 39354494Free PMC Article
The response to growth hormone treatment in a child with short stature, growth hormone deficiency and autosomal dominant cutis laxa type 3 - case report.
Iancu ME, Albu AI, Albu DN
J Pediatr Endocrinol Metab 2022 Sep 27;35(9):1211-1214. Epub 2022 Jul 1 doi: 10.1515/jpem-2022-0054. PMID: 35770839
Review of clinical and molecular variability in autosomal recessive cutis laxa 2A.
Morlino S, Nardella G, Castellana S, Micale L, Copetti M, Fusco C, Castori M
Am J Med Genet A 2021 Mar;185(3):955-965. Epub 2020 Dec 27 doi: 10.1002/ajmg.a.62047. PMID: 33369135
Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family.
Tekedereli I, Demiral E, Gokce IK, Esener Z, Camtosun E, Akinci A
Clin Dysmorphol 2019 Apr;28(2):63-65. doi: 10.1097/MCD.0000000000000258. PMID: 30640789
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.
Kariminejad A, Afroozan F, Bozorgmehr B, Ghanadan A, Akbaroghli S, Khorram Khorshid HR, Mojahedi F, Setoodeh A, Loh A, Tan YX, Escande-Beillard N, Malfait F, Reversade B, Gardeitchik T, Morava E
Int J Mol Sci 2017 Mar 15;18(3) doi: 10.3390/ijms18030635. PMID: 28294978Free PMC Article

Therapy

The response to growth hormone treatment in a child with short stature, growth hormone deficiency and autosomal dominant cutis laxa type 3 - case report.
Iancu ME, Albu AI, Albu DN
J Pediatr Endocrinol Metab 2022 Sep 27;35(9):1211-1214. Epub 2022 Jul 1 doi: 10.1515/jpem-2022-0054. PMID: 35770839
Pituicytoma with gelsolin amyloid deposition.
Ida CM, Yan X, Jentoft ME, Kip NS, Scheithauer BW, Morris JM, Dogan A, Parisi JE, Kovacs K
Endocr Pathol 2013 Sep;24(3):149-55. doi: 10.1007/s12022-013-9254-y. PMID: 23817895

Prognosis

The first Japanese case of autosomal dominant cutis laxa with a frameshift mutation in exon 30 of the elastin gene complicated by small airway disease with 8 years of follow-up.
Kaji M, Namkoong H, Chubachi S, Tanaka H, Asakura T, Haraguchi Hashiguchi M, Yamada M, Uehara T, Suzuki H, Tanabe N, Yamada Y, Nozaki T, Ouchi T, Tsuji A, Kosaki K, Hasegawa N, Fukunaga K
BMC Pulm Med 2024 Oct 1;24(1):481. doi: 10.1186/s12890-024-03290-5. PMID: 39354494Free PMC Article
Review of clinical and molecular variability in autosomal recessive cutis laxa 2A.
Morlino S, Nardella G, Castellana S, Micale L, Copetti M, Fusco C, Castori M
Am J Med Genet A 2021 Mar;185(3):955-965. Epub 2020 Dec 27 doi: 10.1002/ajmg.a.62047. PMID: 33369135
Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome?
Brunetti-Pierri N, Piccolo P, Morava E, Wevers RA, McGuirk M, Johnson YR, Urban Z, Dishop MK, Potocki L
Clin Dysmorphol 2011 Apr;20(2):77-81. doi: 10.1097/MCD.0b013e3283439676. PMID: 21285876Free PMC Article
The differential symptomatology of errors of collagen metabolism: a tentative classification.
Maroteaux P, Frézal J, Cohen-Solal L
Am J Med Genet 1986 Jun;24(2):219-30. doi: 10.1002/ajmg.1320240203. PMID: 3717207

Clinical prediction guides

The response to growth hormone treatment in a child with short stature, growth hormone deficiency and autosomal dominant cutis laxa type 3 - case report.
Iancu ME, Albu AI, Albu DN
J Pediatr Endocrinol Metab 2022 Sep 27;35(9):1211-1214. Epub 2022 Jul 1 doi: 10.1515/jpem-2022-0054. PMID: 35770839
Review of clinical and molecular variability in autosomal recessive cutis laxa 2A.
Morlino S, Nardella G, Castellana S, Micale L, Copetti M, Fusco C, Castori M
Am J Med Genet A 2021 Mar;185(3):955-965. Epub 2020 Dec 27 doi: 10.1002/ajmg.a.62047. PMID: 33369135
Pituicytoma with gelsolin amyloid deposition.
Ida CM, Yan X, Jentoft ME, Kip NS, Scheithauer BW, Morris JM, Dogan A, Parisi JE, Kovacs K
Endocr Pathol 2013 Sep;24(3):149-55. doi: 10.1007/s12022-013-9254-y. PMID: 23817895
Recessively inherited severe aortic aneurysm caused by mutated EFEMP2.
Al-Hassnan ZN, Almesned AR, Tulbah S, Hakami A, Al-Omrani A, Al Sehly A, Mohammed S, Majid S, Meyer B, Al-Fayyadh M
Am J Cardiol 2012 Jun 1;109(11):1677-80. Epub 2012 Mar 20 doi: 10.1016/j.amjcard.2012.01.394. PMID: 22440127
Mechanisms of emphysema in autosomal dominant cutis laxa.
Hu Q, Shifren A, Sens C, Choi J, Szabo Z, Starcher BC, Knutsen RH, Shipley JM, Davis EC, Mecham RP, Urban Z
Matrix Biol 2010 Sep;29(7):621-8. Epub 2010 Jun 28 doi: 10.1016/j.matbio.2010.06.005. PMID: 20600892Free PMC Article

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