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January 1990, Vol 108, No. 1 >
ARTICLE | January 1990

Anophthalmia in the Focal Dermal Hypoplasia Syndrome FREE

Dennis M. Marcus, MD; John W. Shore, MD; Daniel M. Albert, MD
[+] Author Affiliations

Accepted for publication August 14, 1989.

Reprint requests to 243 Charles St, Boston, MA 02114 (Dr Albert).


Arch Ophthalmol. 1990;108(1):96-100. doi:10.1001/archopht.1990.01070030102038
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References
Comments

• We examined an orbital exenteration specimen from an anophthalmic patient with focal dermal hypoplasia. Eyelid angiofibromas were evident and immunoperoxidase studies for human papilloma virus were negative. Orbital tissue contained a ductal cyst, chronic inflammation of the lacrimal duct and sac, rudimentary conjunctival fornices, lacrimal gland, striated muscle, and adipose tissue. Microscopic examination revealed a posteriorly located cystic structure with uveal and lens remnants. Neuroectodermal structures consistent with retina, optic nerve, or meninges were not observed, thus representing true anophthalmia. These findings remain as the only histopathologic description of ocular tissues in patients with focal dermal hypoplasia.

REFERENCES

1 +
Wechsler MA, Papa CM, Haberman F, Marion RW.  Variable expression in focal dermal hypoplasia: an example of differential X-chromosome inactivation . AJDC . 1988;;142:297-300.
2 +
Goltz RW, Henderson RR, Hitch JM, Ott JE.  Focal dermal hypoplasia: a review of the literature and report of two cases . Arch Dermatol . 1970;;101:1-11.
3 +
Thomas, Yoshizumi MO, Beyer CK, Craft JL, Albert DM.  Ocular manifestations of focal dermal hypoplasia . Arch Ophthalmol . 1977;;95:1997-2001.
4 +
Willets GS.  Focal dermal hypoplasia . Br J Ophthalmol . 1974;;58:620-624.
5 +
Mannkopf H, Hanney F.  Zum Erscheinungsbild der Kongenitalen Ektodermalen Dysplasien . Graefes Arch Clin Exp Ophthalmol . 1957;;159:643-661.
6 +
Lanzieri M.  Su di una rara associazione di sindrome malformativa craniofacciale e di congenita del perone . Ann Ottal . 1961;:87:667-678.
7 +
Gottlieb SK, Fisher BK, Violin GK.  Focal dermal hypoplasia: a nine year follow-up study . Arch Dermatol . 1973;;108:551-553.
8 +
Goltz RW, Peterson WC, Gorlin RJ, Ravits HG.  Focal dermal hypoplasia . Arch Dermatol . 1962;;86:708-717.
9 +
Goldberg MF.  Oculocutaneous genetic diseases . In: Renie WA, ed. Goldberg's Genetic and Metabolic Eye Disease . 2nd ed. Boston, Mass: Little Brown & Co; 1986;:496-508.
10 +
Howell JB.  Nevus angiolipomatous vs focal dermal hypoplasia . Arch Dermatol . 1965;;92:238-248.
11 +
Holden JD, Akers WA.  Goltz's syndrome: focal dermal hypoplasia: a combined mesoectodermal dysplasia . AJDC . 1967;;114:292-300.
12 +
Gallagher EJ, MacGregor ME, Israelski M.  Chondrodystrophy with ectodermal defects . Arch Dis Child . 1953;;28:14-18.
13 +
Wosyka H.  Ein Fall Von Linearer Poikilodermieahnlicher Atrophie Von Segmentarem Typus . Arch Derm Syph . 1937;;166:531-536.
14 +
Wilson HTH.  Congenital telangiectasia with dysostosis . In: Proceedings of the 10th International Congress of Dermatology . London, England: British Medical Association; 1953;:510-556.
15 +
Gold S.  Poikiloderma congenitale . Br J Dermatol . 1958;;70:378-379.
16 +
Baden HP, Rex IH.  Linear ichthyosis associated with skeletal abnormalities? a new entity . Arch Dermatol . 1970;;102:126-128.
17 +
Stollmann K.  Bisher Noch Nicht Beschriebene Befunde Bei Incontinentia Pigmenti . Dermatol Monatsschr . 1967;;153:489-496.
18 +
Salamon T, Jevtic Z, Lazovic O.  Uber Eine Eigenarige Form der Aplasia (Hypoplasia) Cutis Congenita Mit Multiplen Hypoplastischen Fehlbididungen . Arch Klin Exp Derm . 1963;;217:295-307.
19 +
Daly JF.  Focal dermal hypoplasia . Cutis . 1968;;4:1354-1359.
20 +
Orbaneja JG. Manifestations Associees au Syndrome D'Ehlers-Danlos in Maladies du Tissu Elastique Cutane . Paris, France: Masson et Cie; 1968;:177-181.
21 +
Nickel WR, Lockwood JH.  Ectodermal dysplasia with associated mesodermal defects . Arch Dermatol . 1956;;74:327-328.
22 +
Wodniansky P.  Uber die Formen der Congenitalen Poikilodermie . Arch Klin Exp Derm . 1957;;20:331-342.
23 +
Becker SW, Lindsay DG.  A case for diagnosis: Thomson's poikiloderma: ectodermal and mesodermal dysplasia with osseous involvement, Rothmund syndrome? Arch Dermatol . 1958;;77:620-621.
24 +
Martin-Scott I.  Congenital focal dermal hypoplasia . Br J Dermatol . 1965;;77:60-62.
25 +
Beurey J, Vadot J, Weber M, et al.  Hypolasie dermique en aires et dysplasie meso-ectodermique . Bull Soc Franc Derm Syph . 1967;;74:7-9.
26 +
Dugois P.  Syndrome d'hypoplasia dermique en aires . Bull Soc Franc Derm Syph . 1965;;72:723-725.
27 +
Braun-Falco O, Marghescu S.  Uber Eine Systematisierte Naeviforme Atrophodermie . Arch Klin Exp Derm . 1965;;221:549-565.
28 +
Lever WF.  Hypoplasia cutis congenita . Arch Dermatol . 1964;;90:340.
29 +
Hernandez-Perez E, Diag-Perallon JR.  Enfermedad de Liebermann Cole (Hipoplasia dermica focal) . Med Cutanea . 1969;;3:393-398.
30 +
Gorlin RJ, Meskin LH, Peterson WC.  Focal dermal hypoplasia syndrome . Acta Derm Venereol . 1963;;43:421-440.
31 +
Brinson RR, Schuman BM, Mills LR, Thigpen S, Freedman S.  Multiple squamous papillomas of the esophagus associated with Goltz syndrome . Am J Gastroenterol . 1987;;82:1177-1179.
32 +
Duke-Elder S.  Congenital deformities . In: Duke-Elder S, ed. Systems of Ophthalmology . St Louis, Mo: CV Mosby Co; 1969;;15:416-428, 488-495.
33 +
Mann I. Developmental Abnormalities of the Eye . 2nd ed. New York, NY: Harper & Row Publishers Inc; 1957;:60-66.
34 +
Warfel JH.  A case of unilateral degenerative anophthalmia . Am J Ophthalmol . 1961;;51:698-701.
35 +
Francois J.  Syndromes with congenital cataract . Am J Ophthalmol . 1961;;52:207-233.
36 +
Gillespie FD.  Hereditary syndrome: 'dysplasia oculodentodigitalis.' Arch Ophthalmol . 1964;;71:187-192.
37 +
Goldberg MF, McKusick VA.  X-linked colobomatous microphthalmos and other congenital anomalies: a disorder resembling Lenz's dysmorphogenetic syndrome . Am J Ophthalmol . 1970;;71:1128-1133.
38 +
Ide CH, Wollschlaeger PB, Wollschlaeger G.  Oculovertebral syndrome associated with cardiovascular abnormalities . Ann Ophthalmol . 1972;;4:836-841.
39 +
Warburg M.  Anophthalmos complicated by mental retardation and cleft palate . Acta Ophthalmol . 1960;;38:394-404.
40 +
Zimmerman C.  Autopsy report of a case of congenital unilateral anophthalmos . Arch Ophthalmol . 1901;;17:17-22.
41 +
Pinkerton OD.  Bilateral anophthalmia . Arch Ophthalmol . 1960;;63:788-789.
42 +
Cernea P, Balan R, Neacsu A.  Considerations anatomo-cliniques dans l'anophtalmie . Ann Oculist . 1969;;202:1273-1286.
43 +
Sorsby A.  Anophthalmos: an unpublished manuscript by James Briggs Giving: the first account of the familial occurrence of the condition . Br J Ophthalmol . 1934;;18:469-472.
44 +
Masket S, Galioto FM, Best M.  Anophthalmia, multiple abnormalities, and unusual karyotype . Am J Ophthalmol . 1970;;70:381-383.
45 +
Brownstein S, Bright M, Kirkham TH, Carpenter S.  Anophthalmos: report of two cases . Can J Ophthalmol . 1977;;12:143-146.
46 +
Ide CH, Miller GW, Wollschlaeger PB.  Familial facial dysplasia . Arch Ophthalmol . 1970;;84:427-432.
47 +
Francois J. Heredity in Ophthalmology . St Louis, Mo: CV Mosby Co; 1961;:174-176.
48 +
Sjogren T, Larsson T.  Microphthalmos and anophthalmos with or without coincident oligonephria . Acta Psychiatr Neurol . 1949;;56( (suppl) ):1-103.
49 +
Sassani JW, Yanoff M.  Anophthalmos in an infant with multiple congenital anomalies . Am J Ophthalmol . 1977;;83:43-48.
50 +
Brunquell PJ, Papale JH, Horton JC, et al.  Sex-linked hereditary bilateral anophthalmos: pathologic and radiologic correlation . Arch Ophthalmol . 1984;;102:108-113.
51 +
Cohen MM Jr.  Variability versus 'incidental findings' in the first and second branchial arch syndrome: unilateral variants with anophthalmia . Birth Defects . 1971;;7:103-108.
52 +
Traboulsi EI, Nasr AM, Fahd SD, Jabbour NM, Der Kaloustian VM.  Waardenburg's recessive anophthalmia syndrome . Ophthalmic Paediatr Genet . 1984;;4:13-18.

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Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature

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1 +
Wechsler MA, Papa CM, Haberman F, Marion RW.  Variable expression in focal dermal hypoplasia: an example of differential X-chromosome inactivation . AJDC . 1988;;142:297-300.
2 +
Goltz RW, Henderson RR, Hitch JM, Ott JE.  Focal dermal hypoplasia: a review of the literature and report of two cases . Arch Dermatol . 1970;;101:1-11.
3 +
Thomas, Yoshizumi MO, Beyer CK, Craft JL, Albert DM.  Ocular manifestations of focal dermal hypoplasia . Arch Ophthalmol . 1977;;95:1997-2001.
4 +
Willets GS.  Focal dermal hypoplasia . Br J Ophthalmol . 1974;;58:620-624.
5 +
Mannkopf H, Hanney F.  Zum Erscheinungsbild der Kongenitalen Ektodermalen Dysplasien . Graefes Arch Clin Exp Ophthalmol . 1957;;159:643-661.
6 +
Lanzieri M.  Su di una rara associazione di sindrome malformativa craniofacciale e di congenita del perone . Ann Ottal . 1961;:87:667-678.
7 +
Gottlieb SK, Fisher BK, Violin GK.  Focal dermal hypoplasia: a nine year follow-up study . Arch Dermatol . 1973;;108:551-553.
8 +
Goltz RW, Peterson WC, Gorlin RJ, Ravits HG.  Focal dermal hypoplasia . Arch Dermatol . 1962;;86:708-717.
9 +
Goldberg MF.  Oculocutaneous genetic diseases . In: Renie WA, ed. Goldberg's Genetic and Metabolic Eye Disease . 2nd ed. Boston, Mass: Little Brown & Co; 1986;:496-508.
10 +
Howell JB.  Nevus angiolipomatous vs focal dermal hypoplasia . Arch Dermatol . 1965;;92:238-248.
11 +
Holden JD, Akers WA.  Goltz's syndrome: focal dermal hypoplasia: a combined mesoectodermal dysplasia . AJDC . 1967;;114:292-300.
12 +
Gallagher EJ, MacGregor ME, Israelski M.  Chondrodystrophy with ectodermal defects . Arch Dis Child . 1953;;28:14-18.
13 +
Wosyka H.  Ein Fall Von Linearer Poikilodermieahnlicher Atrophie Von Segmentarem Typus . Arch Derm Syph . 1937;;166:531-536.
14 +
Wilson HTH.  Congenital telangiectasia with dysostosis . In: Proceedings of the 10th International Congress of Dermatology . London, England: British Medical Association; 1953;:510-556.
15 +
Gold S.  Poikiloderma congenitale . Br J Dermatol . 1958;;70:378-379.
16 +
Baden HP, Rex IH.  Linear ichthyosis associated with skeletal abnormalities? a new entity . Arch Dermatol . 1970;;102:126-128.
17 +
Stollmann K.  Bisher Noch Nicht Beschriebene Befunde Bei Incontinentia Pigmenti . Dermatol Monatsschr . 1967;;153:489-496.
18 +
Salamon T, Jevtic Z, Lazovic O.  Uber Eine Eigenarige Form der Aplasia (Hypoplasia) Cutis Congenita Mit Multiplen Hypoplastischen Fehlbididungen . Arch Klin Exp Derm . 1963;;217:295-307.
19 +
Daly JF.  Focal dermal hypoplasia . Cutis . 1968;;4:1354-1359.
20 +
Orbaneja JG. Manifestations Associees au Syndrome D'Ehlers-Danlos in Maladies du Tissu Elastique Cutane . Paris, France: Masson et Cie; 1968;:177-181.
21 +
Nickel WR, Lockwood JH.  Ectodermal dysplasia with associated mesodermal defects . Arch Dermatol . 1956;;74:327-328.
22 +
Wodniansky P.  Uber die Formen der Congenitalen Poikilodermie . Arch Klin Exp Derm . 1957;;20:331-342.
23 +
Becker SW, Lindsay DG.  A case for diagnosis: Thomson's poikiloderma: ectodermal and mesodermal dysplasia with osseous involvement, Rothmund syndrome? Arch Dermatol . 1958;;77:620-621.
24 +
Martin-Scott I.  Congenital focal dermal hypoplasia . Br J Dermatol . 1965;;77:60-62.
25 +
Beurey J, Vadot J, Weber M, et al.  Hypolasie dermique en aires et dysplasie meso-ectodermique . Bull Soc Franc Derm Syph . 1967;;74:7-9.
26 +
Dugois P.  Syndrome d'hypoplasia dermique en aires . Bull Soc Franc Derm Syph . 1965;;72:723-725.
27 +
Braun-Falco O, Marghescu S.  Uber Eine Systematisierte Naeviforme Atrophodermie . Arch Klin Exp Derm . 1965;;221:549-565.
28 +
Lever WF.  Hypoplasia cutis congenita . Arch Dermatol . 1964;;90:340.
29 +
Hernandez-Perez E, Diag-Perallon JR.  Enfermedad de Liebermann Cole (Hipoplasia dermica focal) . Med Cutanea . 1969;;3:393-398.
30 +
Gorlin RJ, Meskin LH, Peterson WC.  Focal dermal hypoplasia syndrome . Acta Derm Venereol . 1963;;43:421-440.
31 +
Brinson RR, Schuman BM, Mills LR, Thigpen S, Freedman S.  Multiple squamous papillomas of the esophagus associated with Goltz syndrome . Am J Gastroenterol . 1987;;82:1177-1179.
32 +
Duke-Elder S.  Congenital deformities . In: Duke-Elder S, ed. Systems of Ophthalmology . St Louis, Mo: CV Mosby Co; 1969;;15:416-428, 488-495.
33 +
Mann I. Developmental Abnormalities of the Eye . 2nd ed. New York, NY: Harper & Row Publishers Inc; 1957;:60-66.
34 +
Warfel JH.  A case of unilateral degenerative anophthalmia . Am J Ophthalmol . 1961;;51:698-701.
35 +
Francois J.  Syndromes with congenital cataract . Am J Ophthalmol . 1961;;52:207-233.
36 +
Gillespie FD.  Hereditary syndrome: 'dysplasia oculodentodigitalis.' Arch Ophthalmol . 1964;;71:187-192.
37 +
Goldberg MF, McKusick VA.  X-linked colobomatous microphthalmos and other congenital anomalies: a disorder resembling Lenz's dysmorphogenetic syndrome . Am J Ophthalmol . 1970;;71:1128-1133.
38 +
Ide CH, Wollschlaeger PB, Wollschlaeger G.  Oculovertebral syndrome associated with cardiovascular abnormalities . Ann Ophthalmol . 1972;;4:836-841.
39 +
Warburg M.  Anophthalmos complicated by mental retardation and cleft palate . Acta Ophthalmol . 1960;;38:394-404.
40 +
Zimmerman C.  Autopsy report of a case of congenital unilateral anophthalmos . Arch Ophthalmol . 1901;;17:17-22.
41 +
Pinkerton OD.  Bilateral anophthalmia . Arch Ophthalmol . 1960;;63:788-789.
42 +
Cernea P, Balan R, Neacsu A.  Considerations anatomo-cliniques dans l'anophtalmie . Ann Oculist . 1969;;202:1273-1286.
43 +
Sorsby A.  Anophthalmos: an unpublished manuscript by James Briggs Giving: the first account of the familial occurrence of the condition . Br J Ophthalmol . 1934;;18:469-472.
44 +
Masket S, Galioto FM, Best M.  Anophthalmia, multiple abnormalities, and unusual karyotype . Am J Ophthalmol . 1970;;70:381-383.
45 +
Brownstein S, Bright M, Kirkham TH, Carpenter S.  Anophthalmos: report of two cases . Can J Ophthalmol . 1977;;12:143-146.
46 +
Ide CH, Miller GW, Wollschlaeger PB.  Familial facial dysplasia . Arch Ophthalmol . 1970;;84:427-432.
47 +
Francois J. Heredity in Ophthalmology . St Louis, Mo: CV Mosby Co; 1961;:174-176.
48 +
Sjogren T, Larsson T.  Microphthalmos and anophthalmos with or without coincident oligonephria . Acta Psychiatr Neurol . 1949;;56( (suppl) ):1-103.
49 +
Sassani JW, Yanoff M.  Anophthalmos in an infant with multiple congenital anomalies . Am J Ophthalmol . 1977;;83:43-48.
50 +
Brunquell PJ, Papale JH, Horton JC, et al.  Sex-linked hereditary bilateral anophthalmos: pathologic and radiologic correlation . Arch Ophthalmol . 1984;;102:108-113.
51 +
Cohen MM Jr.  Variability versus 'incidental findings' in the first and second branchial arch syndrome: unilateral variants with anophthalmia . Birth Defects . 1971;;7:103-108.
52 +
Traboulsi EI, Nasr AM, Fahd SD, Jabbour NM, Der Kaloustian VM.  Waardenburg's recessive anophthalmia syndrome . Ophthalmic Paediatr Genet . 1984;;4:13-18.

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