In conclusion, we recommend a detailed familyhistory and a
possible role for genetic testing if thehistory and findings from
physical examination sug-gest a familial cancer syndrome.
Seth B. Forman, MD,a,b,c William B. Tyler, MD,b,c
R. Patrick Dorion, MD,c and Dirk M. Elston,MDa,b,c
Departments of Dermatology,a Dermatopathology,b
and Pathology,c Geisinger Medical Center, Dan-ville,
Funding sources: None.
Conflicts of interest: None declared.
732 LettersCorrespondence to: Seth B. Forman, MD,
GeisingerMedical Center, Dermatology/Dermatopathology,100 N Academy
Dr, MC 14-06, Danville, PA17822
E-mail: [email protected]
1. Karakuzu A, Koc M, Ozdemir S. Multiple cutaneous
from male breast carcinoma. J Am Acad Dermatol 2006;55:
2. Fisher B, Redmond C, Fisher ER, Caplan R. Relative worth
estrogen or progesterone receptor and pathologic
tics of differentiation as indicators of prognosis of node
negative breast cancer patients: findings from national
adjuvant breast and bowel protocol B-06. J Clin Oncol
3. Ross JS, Fletcher JA, Linette GP, Stec J, Clark E, Ayers M,
The Her-2/neu gene and protein in breast cancer 2003:
biomarker and target of therapy. Oncologist 2003;8:307-25.
4. Liede A, Karlan BY, Narod SA. Cancer risks for male carriers
germline mutations in BRCA 1 or BRCA 2: a review of the
literature. J Clin Oncol 2004;22:735-42.
Odonto-onycho-dermal dysplasia syndrome
To the Editor: Odonto-onycho-dermal dysplasiasyndrome (OMIM
#257980), first reported in 1983,represents a rare type of
ectodermal dysplasia, withonly 10 reported cases worldwide.1-4 All
10 reportedcases noted oligodontia and palmoplantar kerato-derma.
Nine of 10 patients had hyperhidrosis, whileeight patients
demonstrated dystrophic nails1-4 andseven displayed erythematous,
reticulated, atrophicpatches on the malar area.1-3 Only two
patients hadfollicular hyperkeratosis.4
A 26-year-old male, originally from Lebanon,Ohio, presented with
a lifelong history of an asymp-tomatic, unremitting facial
eruption, fingernail andtoenail changes, thick scaling on his palms
and soles,mild hyperhidrosis of the palms and soles, andwidely
spaced conical teeth. He never possessed anypermanent teeth. There
was no family history ofany such skin problems and he had not
attemptedany therapy other than undergoing more than$35,000 in
cosmetic dentistry procedures. Physicalexamination revealed several
fairly well-defined,erythematous, telangiectatic, reticulated,
atrophicplaques on the nose (Fig 1, A) and cheeks (Fig 1,B). Mild
hyperkeratosis diffusely covered his palmsand soles with extension
of mild erythema to thedorsal aspect of the hands and feet. The
nails werevariably affected, demonstrating spooning, splitting,and
onycholysis with periungual fissuring (Fig 2)and longitudinal
ridging. He had mild follicularhyperkeratosis on the forearms. A
dental examinationrevealed fewconical shaped teeth butmostly
artificialdentition. No biopsies were performed. The patientbegan
application of triamcinolone acetonide 0.025%to his facial eruption
and 40% urea to his palms andsoles.
Documented predominantly in the genetics liter-ature,
odonto-onycho-dermal dysplasia syndromerepresents a rare type of
ectodermal dysplasia withlikely autosomal recessive inheritance.
Eight of the
Fig 1. A, The characteristic eruption over the nose
dem-onstrates fairly well-defined, erythematous,
reticulated,telangiectatic, mildly atrophic plaques. B, The same
char-acteristic eruption over the cheeks demonstrates
fairlywell-defined, erythematous, reticulated,
telangiectatic,mildly atrophic plaques.
J AM ACAD DERMATOLOCTOBER 2007previously reported patients were
details therapy, but a reasonable approach to treat-ment
includes topical keratolytic agents along withwarm water soaks and
pumice stone debridementfor the hyperkeratosis. It is unclear if
topical corti-costeroids improve the facial eruption associatedwith
this syndrome. More than 200 variants of ecto-dermal dysplasias
exist; the unique combination ofclinical findings (especially the
presence of the malareruption) allows the clinician to correctly
Brian B. Adams, MD, MPHFig 2. The nails demonstrate spooning,
J AM ACAD DERMATOLVOLUME 57, NUMBER 4
Letters 733was Dutch,3 and one was from Wisconsin2; eightwere
males and two were females. The characteristicerythematous,
reticulated, telangiectatic, atrophicmalar eruption, combined with
the presence ofdystrophic nails, palmoplantar hyperkeratosis,
con-ical widely spaced teeth with a lack of permanentteeth, and
hyperhidrosis typify this type of ectoder-mal dysplasia. The
variable findings of dystrophicnails include subungual
hyperkeratosis, onycholysis,central grooves, longitudinal ridging,
and a thick-ened nail plate. Teeth abnormalities include
small,widely spaced peg teeth, hypodontia, and con-genital absence
of most and sometimes all secondaryteeth. Three biopsies of the
hyperkeratotic areas inthe previously reported patients
demonstrated or-thohyperkeratosis, mild acanthosis, and
irregularhypergranulosis,1,3 while biopsies of two patientswith the
characteristic facial eruption revealedmildlyatrophic epidermis and
basophilic degeneration ofthe collagen in the upper dermis.1
The genetic defect of odonto-onycho-dermal dys-plasia syndrome
is unknown. None of the reports
onycholysis; there is also periungual fissuring. Not all
nailspossessed these changes; some appeared
completelynormal.Department of Dermatology, University of
Cincin-nati, and the Director of Section of Dermatology,Veterans
Affairs Medical Center, Cincinnati,Ohio
Funding source: None.
Conflicts of interest: None declared.
Correspondence to: Brian B. Adams, MD, MPH,Department of
Dermatology, University of Cin-cinnati, PO Box 670592, Cincinnati,
E-mail: [email protected]
1. Fadhil M, Ghabra TA, Deeb M, DerKaloustian VM. Odontoony-
chodermal dysplasia: a previously apparently undescribed
ectodermal dysplasia. Am J Med Genet 1983;14:35-46.
2. Zirbel GM, Ruttum MS, Post AC, Esterly NB. Odonto-onycho-
dermal dysplasia. Br J Dermatol 1995;133:797-800.
3. Arnold WP, Merkx MAW, Steijlen PM. Variant of
dermal dysplasia? Am J Med Genet 1995;59:242-4.
4. Megarbane H, Haddad M, Delague V, Renoux J, Boehm N,
Megarbane A. Further delineation of the odonto-onycho-
dermal dysplasia syndrome. Am J Med Genet 2004;129A:193-7.
Odonto-onycho-dermal dysplasia syndromeREFERENCES