close

Вход

Забыли?

вход по аккаунту

?

903

код для вставкиСкачать
American Journal of Medical Genetics 72:462–467 (1997)
Autosomal Dominant Hypohidrotic Ectodermal
Dysplasia in a Large Family
Andrew L. Aswegan,1 Kevin D. Josephson,2 Rodney Mowbray,3 Richard M. Pauli,4
Richard A. Spritz,4 and Marc S. Williams5*
1
Gundersen Medical Foundation, La Crosse, Wisconsin
La Crosse Regional Genetic Services Project, La Crosse, Wisconsin
3
Department of Physics, University of Wisconsin, La Crosse, Wisconsin
4
Department of Pediatrics and Medical Genetics, University of Wisconsin Madison, Wisconsin
5
Department of Pediatrics, Gundersen Lutheran Medical Center, La Crosse, Wisconsin
2
We have studied an autosomal dominant hypohidrotic ectodermal dysplasia in 38 individuals over six generations in one family.
Thirty-two affected individuals in four generations are still living. Questionnaire responses were received from 21 of the affected relatives and some of the individuals
were examined by one of the authors.
Smooth, dry, thin skin is seen in most affected individuals. Nearly all have fine,
slow-growing scalp and body hair and all
have sparse eyebrows and short eyelashes.
Nearly all show a decrease in sweating, with
some only sweating under the arms and/or
on the palms and soles. All affected individuals lacked some deciduous teeth and
some permanent teeth. Some teeth are abnormally shaped. Nail abnormalities are
more variable and may occur more frequently with increasing age. No other abnormalities are seen in affected individuals
in this family. We reviewed 40 autosomal
dominant ectodermal dysplasia syndromes.
This family bears some resemblance to a
family described by Jorgensen et al. [1987];
however, it appears to represent a disorder
that has not been described previously. Am.
J. Med. Genet. 72:462–467, 1997.
© 1997 Wiley-Liss, Inc.
KEY WORDS: ectodermal dysplasia; autosomal dominant; hypohidrotic
INTRODUCTION
Over 100 types of ectodermal dysplasia have been
catalogued by Freire-Maia and Pinheiro [1984], and
over 40 of these are thought to be autosomal dominant
traits [Online Mendelian Inheritance in Man, OMIM,
1996]. We report on a family with an autosomal dominant ectodermal dysplasia characterized by hypotrichosis, hypohidrosis, hypodontia with abnormally
shaped teeth, and variable nail abnormalities.
METHODS
The family under study is known to contain 38 affected individuals over six generations (Fig. 1). Questionnaires were sent out and responses were received
from 44 of the relatives. Where appropriate, a close
relative completed the questionnaire for deceased relatives. Examination was performed on 26 individuals by
one of the authors (MSW).
CLINICAL DESCRIPTION
Hair (Fig. 2)
Abnormalities of hair are present in all affected individuals. Most individuals have sparse, fine, slowgrowing scalp hair. Some individuals (IV-20) were completely bald by their middle teens, whereas other individuals (V-1, V-2) have normal amounts of scalp hair,
though abnormal in texture (V-1, fine, silky; V-2,
coarse). Sparse eyebrows and eyelashes were always
found. Most individuals show decreased body hair, pubic hair, and/or axillary hair, but these traits are more
variable. Electron microscopy of hairs from affected
and unaffected individuals in one branch of the family
(V-57, V-65, VI-1, VI-2) showed no abnormalities.
Skin
*Correspondence to: Dr. Marc S. Williams, Gundersen Lutheran Medical Center, 1836 South Avenue, La Crosse, WI 54601.
E-mail:[email protected]
Received 13 December 1996; Accepted 14 February 1997
© 1997 Wiley-Liss, Inc.
Most individuals report dry skin. Affected individuals have a smooth, almost velvety skin texture. The
skin of affected individuals also seems to be ‘‘thinner’’
Fig. 1. Pedigree with autosomal dominant inheritance of an ectodermal dysplasia. N.B. Numbering is not consecutive in generations due to ascertainment of relatives at different times. Renumbering
was not done as the numbers are being used as identifiers for mapping studies. Open symbols are patients unaffected by history. Crosses in symbols are patients unaffected on examination. Closed symbols
are affected patients, with asterisks indicating patients who have been examined.
464
Aswegan et al.
Fig. 2.
Hypohidrotic Ectodermal Dysplasia
465
Fig. 2. Variable hair findings in family. A,B: Individual V-37 showing significant thinning and loss of scalp hair and thinning of eyebrows. Note
preservation of facial hair. C,D: Individual IV-9 showing fine, thin hair. Eyebrows are absent (pt. uses cosmetics). E–H: Siblings V-1 and V-2 showing
thick coarse scalp hair, but absent eyebrows.
than expected for age. Some had venous prominence,
but this was variable. A few individuals report ‘‘susceptibility to rashes.’’
Sweating
Almost all affected relatives have decreased sweating and many show heat intolerance. Some individuals
only sweat in certain areas on their body. Common
sites of sweating include palms, soles, and axillae.
Teeth (Fig. 3)
Hypodontia and irregularly shaped primary incisors
(conical or pointed) are a universal trait among affected
individuals. All lacked some deciduous teeth, and
nearly all lacked four lower permanent incisors. Some
affected relatives lacked other permanent teeth, in descending order: upper incisors, canines, bicuspids.
Most had a partial plate by their teens or twenties.
Teeth were not discolored. Most affected individuals
were not unusually susceptible to dental caries.
Nails
About half of affected individuals report mild fingernail abnormalities. Slow nail growth and split nails are
reported most commonly. A few individuals had a longitudinal ridging, thinning, and superficial peeling.
Nail problems occur more frequently in older individuals. This suggests that the nail beds are more susceptible to progressive injury with age. Toenails were generally normal.
Facial Features
Facial appearance is not particularly unusual. Mild
frontal bossing and malar flattening is seen in most
individuals. These changes appear to be common to
many ectodermal dysplasias, and do not allow clinical
distinction.
Other Manifestations
A few individuals complain of dry eyes, but most
have normal tear production. This may also be associ-
ated with increasing age. Production of saliva is normal. Females do not report decreased vaginal secretion. No hypermobility of joints was reported. There
are no abnormalities of vision or hearing. Dermal
ridges are generally normal, although a few older individuals have some ‘‘smoothing’’ of ridges. No other
anomalies are present in this family.
DISCUSSION
This family’s disorder was compared to other autosomal dominant hypohidrotic, hypodontic, and hypotrichotic disorders, and all but two could be excluded with
confidence. Both are described by Jorgenson [1974; Jorgenson et al., 1987] (Table I). In 1974, Jorgenson described a condition of dry skin, hypohidrosis, dystrophic nails, poor teeth, and hypotrichosis. The hypotrichosis included thin, coarse hair and sparse eyebrows
and eyelashes. The affected persons in that family also
had dry eyes, unusual dermatoglyphic patterns, and
loose-jointedness. The condition described here does
not comprise unusual dermatoglyphics, dry eyes, or
loose-jointedness and the nail dystrophy in this family
is much milder. The family described here and that of
Jorgenson may not represent the same disorder.
The report of Jorgenson et al. [1987] included a boy
and his mother with hypohidrosis, conical primary
teeth, random lack of permanent teeth, hyperextensible joints, and hypotrichosis. The patients described
here showed a specific pattern of absence of permanent
teeth. The report of Jorgenson et al. also contains no
mention of sparseness of eyebrows or eyelashes, which
was universally found in this described family. Our patients also showed a decrease in body hair in the axillary and pubic regions. This was not found in the patients described by Jorgenson. However, these two
families do share many major traits.
Whether the minor clinical differences are sufficient
to characterize these as two distinct autosomal dominant ectodermal dysplasias is not clear. However, we
466
Aswegan et al.
Fig. 3. Dental findings. A,B: Individuals V-35 and V-37 showing pegshaped canine. C,D: Mother and daughter IV-9 and V-78 showing absence
of two lower incisors (C) and absence of all lower incisors (D). Note also
unusual form of canines and bicuspids. E: Individual VI-1: note pointed
deciduous incisors.
Hypohidrotic Ectodermal Dysplasia
467
TABLE I. Clinical Manifestations
Number affected
Finding
Skin
Smooth
Dry
Thin
Hair
Sparse
Fine
Slow growing
Sparse eyebrows
Sparse eyelashes
Sparse body hair
Sweating
Decreased sweating
Heat intolerance
Nails
Pits/ridges/splitting
Teeth
Delayed eruption
Absent deciduous
Absent permanent
Conical teeth
Our family
26 pts.
Jorgenson et al., 1987
5 pts.
Jorgenson, 1974
3 pts.
21
17
21
NRa
1
NR
1
3
NR
22
23
17
25
26
16
4
NR
NR
0
0
NR
2
NR
2
1
1
NR
22
13
3
1
3
1
10
NR
3
12
22
26
21
1
2
4
4
0
1
3
0
a
NR, not reported.
think, as does Jorgenson (personal communication,
1996), that they probably represent distinct entities.
REFERENCES
Freire-Maia N, Pinheiro M (1984): ‘‘Ectodermal Dysplasias: A Clinical and
Genetic Study.’’ New York: Alan R. Liss, Inc.
Jorgenson RJ (1974): Ectodermal dysplasia with hypotrichosis, hypohidro-
sis, defective teeth, and unusual dermatoglyphics (Basan syndrome?).
New York: Alan R. Liss, Inc., for the National Foundation–March of
Dimes. BD:OAS X(4):323–325.
Jorgenson RJ, Dowben JS, Dowben SL (1987): Autosomal dominant ectodermal dysplasia. J Cranio Genet Dev Biol 7:403–412.
Online Mendelian Inheritance in Man, OMIM (TM) (1996): Center for
Medical Genetics, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD).
Документ
Категория
Без категории
Просмотров
4
Размер файла
453 Кб
Теги
903
1/--страниц
Пожаловаться на содержимое документа