918 Letters
MAY 2005
Detlef Zillikens, MDb
Peter Altmeyer, MDa
Departments of Dermatology
Ruhr-University Bochuma
University of Lübeckb
Correspondence to: Alexander Kreuter, MD
Department of Dermatology
Ruhr-University Bochum
Gudrunstrasse 56, D-44791
Bochum, Germany
E-mail: a.kreuter@derma.de
REFERENCES
1. Lu CI, Yang CH, Hong HS. A bullous neutrophilic dermatosis in a
patient with severe rheumatoid arthritis and monoclonal IgA
gammopathy. J Am Acad Dermatol 2004;51:94-6.
2. Lowe L, Kornfeld B, Clayman J, Golitz LE. Rheumatoid neutro-
philic dermatitis. J Cutan Pathol 1992;19:48-53.
3. Ackerman AB. Histologic diagnosis of inflammatory skin dis-
eases: a method by pattern analysis. Philadelphia (PA): Lea &
Febiger; 1978. pp. 449-50.
doi:10.1016/j.jaad.2004.10.013
Pigmentary mosaicism and mosaic
Turner syndrome
To the Editor: Pigmentary mosaicism (formerly
known as hypomelanosis of Ito) is a sporadic
disorder characterized by cutaneous hypopigmenta-
tion following the lines of Blaschko.1 Between 14%
and 94% of pigmentary mosaicism patients have
been reported to show associated extracutaneous
abnormalities, including abnormal features of the
musculoskeletal, ocular, and central nervous sys-
tems.1-4 Such a wide range is caused by the different
criteria of selection and referral as well as a misuse of
and confusion about the terms incontinentia pig-
menti achromians and incontinentia pigmenti. A
mosaic state with a variety of chromosomal abnor-
malities has been demonstrated in up to 60% of
patients.5
We describe two patients with hypopigmentation
along the lines of Blaschko associated with mosaic
Turner syndrome. Our first patient is a 6-year-old
white female who had developed pigmentary
changes by 2 years of age. The patient exhibited no
developmental delays, eye abnormalities, seizure
disorders, or musculoskeletal malformations, other
than short stature. On cutaneous physical examina-
tion, broad bands and whorls of hypopigmentation
following Blaschko’s lines were distributed bilater-
ally over the patient’s trunk and proximal extremities
(Fig 1). The patient did not possess a shield chest,
widely spaced nipples, webbed neck, or low poste-
J AM ACAD DERMATOL
Fig 1. Patient 1 with broad bands and whorls of hypo-
pigmentation distributed over the left lateral aspect of the
trunk.
rior hairline. Chromosomal analysis revealed mosaic
Turner syndrome, with 56% of cells showing 45, X
and 44% of cells showing 46, XY. The patient was
referred to the surgery department for gonadal ex-
cision and to an endocrinologist for growth hormone
replacement therapy.
Our second patient is a 15-year-old white female
who developed linear hypopigmentation during in-
fancy and exhibited no developmental delays, eye
abnormalities, seizure disorders, musculoskeletal mal-
formations, or thyroid disease. She showed whorls
and streaks of hypopigmentation on her upper and
lower limbs. Additional cutaneous features included
lower limb lymphedema and pterygium coli (Fig 2).
Chromosomal analysis revealed mosaic Turner syn-
drome, with 95% of cells showing 45, X and 5% of
cells showing 46, XX. The patient had been on
growth hormone therapy for 2 years, with good
results.
While the association between pigmentary mosa-
icism and various chromosomal mosaic abnormali-
ties is well documented, its association with mosaic
Turner syndrome is extremely rare, with fewer than
10 cases reported in the literature.2,6-11 Common
clinical features of Turner syndrome include short
stature, shield chest with widely spaced nipples,
webbed neck, low posterior hairline, congenital pe-
ripheral edema, pigmented nevi, gonadal dysgene-
sis, normal intelligence, ocular, cardiac, and thyroid
abnormalities.12 The mosaic form of Turner
J AM ACAD DERMATOL
VOLUME 52, NUMBER 5
Fig 2. Patient 2 with typical Turner syndrome findings
including pterygium coli.
syndrome occurs when a somatic mutation arises
early in embryogenesis after the fertilized egg has
divided at least once, producing two genetically
distinct cell lines. It is tempting to speculate that
both of our patients with mosaic Turner syndrome
also express the same mosaic 45, X state in the
hypopigmented skin; however, this was not substan-
tiated by karyotyping of fibroblasts or keratinocytes.
Previous studies have been unable to adequately
correlate differences in pigmentation with karyo-
typic differences.8,11
We recommend referral of patients with pigmen-
tary mosaicism for genetic analysis and counseling.
As many systemic abnormalities are associated with
pigmentary mosaicism, baseline ocular, neurologic,
and skeletal examinations should be performed. Our
first patient exemplifies how an abnormal chromo-
somal state may underlie in a patient with hypopig-
mented mosaicism and no other overt systemic
manifestations. Karyotype from peripheral blood
cells, and if possible, from fibroblasts and keratino-
cytes, should be obtained, because chromosomal ab-
normalities with significant yet subtle consequences
may reveal themselves in the process.
Laura Capaldi, BSa
Jennifer Gray, MDa
Dianne Abuelo, MDb
Antonio Torrelo, MDc
Jose Nieto, MDd
Candace Lapidus, MDa
Leslie Robinson-Bostom, MDa
Department of Dermatologya
Department of Pediatrics, Division of Geneticsb
Brown Medical School, Rhode Island Hospital
Providence, RI
Department of Dermatologyc
Department of Endocrinologyd
Hospital del Niño Jesús
Madrid, Spain
Letters 919
Correspondence to: Leslie Robinson-Bostom, MD
Department of Dermatology, Brown Medical School
Rhode Island Hospital-APC 10
593 Eddy Street
Providence, RI 02903
E-mail: Lrobinson-bostom@lifespan.org
REFERENCES
1. Takematsu H, Sato S, Igarashi M, Seiji M. Incontinentia
pigmenti achromians (Ito). Arch Dermatol 1983;119:391-5.
2. Nehal KS, PeBenito R, Orlow SJ. Analysis of 54 cases of
hypopigmentation and hyperpigmentation along the lines of
Blaschko. Arch Dermatol 1996;132:1167-70.
3. Torrelo A, Solana LG, Garcı́a-Peñas JJ, Ruiz-Falcó ML, Zambrano
A. Hypopigmentation along the lines of Blaschko. A prospective
clinical study of 21 children (Spanish). Actas Dermosifiliogr
1998;89:98-106.
4. Pascual-Castroviejo I, Roche C, Martinez-Bermejo A, Arcas J,
Lopez-Martin V, Tendero A, et al. Hypomelanosis of ITO.
A study of 76 infantile cases. Brain Dev 1998;20:36-43.
5. Sybert VP. Hypomelanosis of Ito: a description, not a diagno-
sis. J Invest Dermatol 1994;103(5 suppl):141S-3S.
6. Ruiz-Maldonado R, Toussaint S, Tamayo L, Laterza A, del
Castillo V. Hypomelanosis of Ito: diagnostic criteria and report
of 41 cases. Pediatr Dermatol 1992;9:1-10.
7. Flannery DB, Byrd JR, Freeman WE, Perlman SA. Hypomela-
nosis of Ito: a cutaneous marker of chromosomal mosaicism
(abstract). Am J Hum Genet 1985;37:A93.
8. Thomas IT, Frias JL, Cantu ES, Lafer CZ, Flannery DB, Graham
JG Jr. Association of pigmentary anomalies with chromosomal
and genetic mosaicism and chimerism. Am J Hum Genet
1989;45:193-205.
9. Sybert VP, Pagon RA, Donlan M, Bradley CM. Pigmentary
abnormalities and mosaicism for chromosomal aberration:
association with clinical features similar to hypomelanosis of
Ito. J Pediatr 1990;116:581-6.
10. Akefeldt A, Gillberg C. Hypomelanosis of Ito in three cases
with autism and autistic-like conditions. Dev Med Child Neurol
1991;33:737-43.
11. Moss C, Larkins S, Stacey M, Blight A, Farndon PA, Davison EV.
Epidermal mosaicism and Blaschko’s lines. J Med Genet
1993;30:752-5.
12. Lowenstein EJ, Kim KH, Glick SA. Turner’s syndrome in
dermatology. J Am Acad Dermatol 2004;50:767-76.
doi:10.1016/j.jaad.2004.11.023
Idiopathic eruptive macular pigmentation
associated with pregnancy and Hashimoto
thyroiditis
To the Editor: Idiopathic eruptive macular pigmen-
tation (IEMP) is a rare condition with unclear
etiology, characterized by asymptomatic macular
pigmentation involving the neck, trunk,and proxi-
mal extremities. We found approximately 23 cases
reported.1-4 To our knowledge, this is the first case of
association of IEMP with pregnancy and autoim-
mune thyroiditis.