Ulerythema Ophryogenes,A Rarely Reported Cutaneous Manifestation of Noonan Syndrome: Case Report and Review of the Literature

Abstract

French

Background:

Ulerythema ophryogenes (also known as keratosis pilaris atrophicans faciei) is a rarely reported cutaneous manifestation of Noonan syndrome.

Objective:

Recognizing ulerythema ophryogenes as a cutaneous association in Noonan syndrome may aid in the diagnosis of this relatively common genetic condition.

Methods:

We present a case of a patient with Noonan syndrome and ulerythema ophryogenes associated with a SOS1 mutation and review the literature on this association.

Results:

To the best of our knowledge, this is the second case of Noonan syndrome proven to be due to an SOS1 mutation in which ulerythema ophryogenes was clinically recognized and specifically diagnosed.

Conclusions:

The presence of ulerythema ophryogenes in a patient with Noonan syndrome increases the likelihood of a SOS1 mutation. Further reports by dermatologists and medical geneticists documenting ulerythema ophryogenes and not just descriptions of sparse or absent eyebrows will help support this genotype-phenotype correlation.

Get full access to this article

View all access options for this article.

References

Witt

Hoyme

Zonana

. Lymphedema in Noonan syndrome: Clues to pathogenesis and prenatal diagnosis and review of the literature. Am J Med Genet 1987;27:841–56, doi:10.1002/ajmg.1320270412.

Wyre

Jr . Cutaneous manifestations of Noonan's syndrome. Arch Dermatol 1978;114:929–30, doi:10.1001/archderm.1978.01640180063015.

Chien

Valentine

Sybert

. Hereditary woolly hair and keratosis pilaris. J Am Acad Dermatol 2006;54(2 Suppl):S35–9, doi:10.1016/j.jaad.2005.01.092.

Pierini

. Keratosis pilaris atrophicans faciei (ulerythema ophryogenes): A cutaneous marker in the Noonan syndrome. Br J Dermatol 1979;100:409–16, doi:10.1111/j.1365-2133.1979.tb01641.x.

Allanson

Bohring

Dorr

. The face of Noonan syndrome: Does phenotype predict genotype. Am J Med Genet A 2010;152A:1960–6, doi:10.1002/ajmg.a.33518.

Cirstea

Kutsche

Dvorsky

. A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet 2010;42:27–9, doi:10.1038/ng.497.

Tartaglia

Zampino

Gelb

. Noonan syndrome: Clinical aspects and molecular pathogenesis. Mol Syndromol 2010;1:2–26, doi:10.1159/000276766.

Denayer

Devriendt

de Ravel

. Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. Genes Chromosomes Cancer 2010;49:242–52.

Tartaglia

Pennacchio

Zhao

. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet 2007;39:75–9, doi:10.1038/ng1939.

10.

Sharland

Burch

McKenna

Paton

. A clinical study of Noonan syndrome. Arch Dis Child 1992;67:178–83, doi:10.1136/adc.67.2.178.

11.

Ferrero

Baldassarre

Delmonaco

. Clinical and molecular characterization of 40 patients with Noonan syndrome. Eur J Med Genet 2008;51:566–72, doi:10.1016/j.ejmg.2008.06.011.

12.

Neri

Allanson

Kavamura

. No reason yet to change diagnostic criteria for Noonan, costello and cardio-facio-cutaneous syndromes. J Med Genet 2008;45:832, doi:10.1136/jmg.2008.063263.

13.

Romano

Allanson

Dahlgren

. Noonan syndrome: Clinical features, diagnosis, and management guidelines. Pediatrics 2010;126:746–59, doi:10.1542/peds.2009-3207.

14.

Noonan

. Noonan syndrome revisited. J Pediatr 1999;135:667–8, doi:10.1016/S0022-3476(99)70082-X.

15.

Bentires-Alj

Kontaridis

Beel

. Stops along the RAS pathway in human genetic disease. Nat Med 2006;12:283–5, doi:10.1038/nm0306-283.

16.

Snell

Mallory

. Ulerythema ophryogenes in Noonan syndrome. Pediatr Dermatol 1990;7:77–8, doi:10.1111/j.1525-1470.1990.tb01080.x.

17.

Armour

Allanson

. Further delineation of cardio-facio-cutaneous syndrome: Clinical features of 38 individuals with proven mutations. J Med Genet 2008;45:249–54, doi:10.1136/jmg.2007.054460.

18.

Burnett

Schwartz

Berberian

. Ulerythema ophryogenes with multiple congenital anomalies. J Am Acad Dermatol 1988;18 (2 Pt 2):437–40, doi:10.1016/S0190-9622(88)70065-1.

19.

Gómez Centeno

Rosón

Peteiro

. Rubinstein-taybi syndrome and ulerythema ophryogenes in a 9-year-old boy. Pediatr Dermatol 1999;16:134–6, doi:10.1046/j.1525-1470.1999.00032.x.

20.

Zouboulis

Stratakis

Gollnick

Orfanos

. Keratosis pilaris/ulerythema ophryogenes and 18p deletion: Is it possible that the LAMA1 gene is involved? J Med Genet 2001;38:127–8, doi:10.1136/jmg.38.2.127.

21.

Nazarenko

Ostroverkhova

Vasiljeva

. Keratosis pilaris and ulerythema ophryogenes associated with an 18p deletion caused by a Y/18 translocation. Am J Med Genet 1999;85:179–82, doi:10.1002/(SICI)1096-8628(19990716)85:2<179::AID-AJMG14>3.0.CO;2-R.

22.

Zouboulis

Stratakis

Rinck

. Ulerythema ophryogenes and keratosis pilaris in a child with monosomy 18p. Pediatr Dermatol 1994;11:172–5, doi:10.1111/j.1525-1470.1994.tb00575.x.

23.

Zenker

Horn

Wieczorek

. SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. J Med Genet 2007;44:651–6, doi:10.1136/jmg.2007.051276.

24.

Velez

Khera

English

III . Eyebrow loss. Clinical review. Am J Clin Dermatol 2007;8:337–46, doi:10.2165/00128071-200708060-00003.

25.

Lebwohl

Heymann

Berth-Jones

Coulson

. Treatment of skin disease: comprehensive therapeutic strategies. 3rd ed. Philadelphia: Elsevier Inc; 2010.

26.

Poskitt

Wilkinson

. Natural history of keratosis pilaris. Br J Dermatol 1994;130:711–3, doi:10.1111/j.1365-2133.1994.tb03406.x.

27.

Callaway

Lesher

Jr . Keratosis pilaris atrophicans: Case series and review. Pediatr Dermatol 2004;21:14–7, doi:10.1111/j.0736-8046.2004.21103.x.

28.

Baden

Byers

. Clinical findings, cutaneous pathology, and response to therapy in 21 patients with keratosis pilaris atrophicans. Arch Dermatol 1994;130:469–75, doi:10.1001/archderm.1994.01690040073011.

29.

Oranje

van Osch

Oosterwijk

. Keratosis pilaris atrophicans. One heterogeneous disease or a symptom in different clinical entities? Arch Dermatol 1994;130:500–2, doi:10.1001/archderm.1994.01690040104017.

30.

Marqueling

Gilliam

Prendiville

. Keratosis pilaris rubra: A common but underrecognized condition. Arch Dermatol 2006;142:1611–6, doi:10.1001/archderm.142.12.1611.

31.

Kaune

Haas

Emmert

. Successful treatment of severe keratosis pilaris rubra with a 595-nm pulsed dye laser. Dermatol Surg 2009;35:1592–5, doi:10.1111/j.1524-4725.2009.01282.x.

32.

Layton

Cunliffe

. A case of ulerythema ophryogenes responding to isotretinoin. Br J Dermatol 1993;129:645–6, doi:10.1111/j.1365-2133.1993.tb11849.x.