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Familial cervical hypertrichosis with underlying kyphoscoliosis
Volume 20 Number 6 June 1989
Thrombotic skin disease: Marker of anticardiolipin syndrome
19. Pizzo SV, Murray JC, Gonias SL. Atrophic blanche: a disorder associated with defective release of tissue plasminogen activator. Arch Pathol Lab Med 1986;110: 517-9. 20. Drucker DR, Duncan WC. Antiplatelet therapy in atrophie blanche and livedo vasculitis. J AM ACADDURMA'rOL 1978;7:359-63. 21. Asherson RA, Marris EN, Gharani AE. Arterial occlusions associated with antibodies to cardiolipln. Arthritis Rheum 1985;28(suppl):589.
22. Sontheimer RD. The anticardiolipin syndrome: a new way to slice an old pie, or a new pie to slice? Arch Dermatol 1987;123:590-5. 23. Ingran SB, Goodnight SM, Bennett RM. An unusual syndrome of a devastating noninflammatory vasculopathy associated with anticardiolipin antibodies: report of 2 cases. Arthritis Rheum 1987;30:1167-72. 24. Robboy ST, Mimh MC, Colman RW, et al. The skin in disseminated intravascular coagulation. Br J Dermatol 1973;88:221-9.
Familial cervical hypertrichosis with underlying kyphoscoliosis Oliver M. Reed, MAJ, MCr J. Ramsey Mellette, Jr., COL, MC, b and James E. Fitzpatrick, LTC, M C u Ft. Jackson, South Carolina, and Aurora, Colorado A family with congenital localized hypertrichosis transmitted in an autosomal dominant pattern is presented. The excessive hair growth was localized to the cervical region and was associated with underlying kyphoscoliosis. No additional cutaneous or skeletal abnormalities were identified. To our knowledge these are the first cases of familial congenital cervical hypertrichosis associated with underlying kyphoscoliosis reported in the literature. (J AM AcAo DERMAVOL1989;20:1069-72.)
Congenital localized hypertrichosis most commonly presents as an abnormal growth of hair overlying the spine. This defect usually is located in the sacral area, producing a "faun tail," although it also has been reported in the lumbar, thoracic, or even cervical regions. 1 Localized hypertrichosis, overlying the spine, typically occurs in a sporadic fashion without evidence of a specific genetic pattern of inheritance. Congenital localized hypertrichosis is an important cutaneous marker, which From the DermatologyService, Department of Medicine, Montcrief Army Hospital," and DermatologyService, Department of Medicine, FitzsimonsArmy Medical Center? Accepted for publicationMay 31, 1988. The opinions or assertions contaiiled herein are the views of the authors and are not to be considered as reflectingthe views of the Department of the Army or the Departmentof Defense. Reprint requests: James E. Fitzpatrick, MD, Dermatology Service, Department of Medicine,FitzsimonsArmy Medical Center, Aurora, CO 80045-6000. *Now at the Pinebrook Regional Medical Center, Brooksville, FL 34613.
m a y indicate underlying skeletal or neural abnormalities? ,2 Herein we present a case of familial congenital hypertrichosis localized to the cervical region with associated underlying kyphoscoliosis. This is the first reported pedigree in which this association has been inherited in an autosomal dominant manner. CASE REPORT
A 63-year-old white woman was seen at the dermatology clinic for evaluation and possible removal of an acquired nevoceUular nevus located on the back. During the cutaneous examination a patch of long, dark hair localized to the cervical area was noted (Fig. 1). A more detailed history revealed that this condition had been present since birth, was not associated with any other abnormalities, and was present in several additional family members. Specifically, the patient's mother, one brother, one daughter, and two grandsons were similarly affected (Fig. 2). The patient had no history of cervical nor hack pain.
1069
1070
Journal of the American Academy of Derma tology
Reed et al.
' 9
...... :~: ~ '~:~'~~"~:?~"~:~ ':;))~!i~!~'ii~i~'~i~!: ~84i(!84184184184 ' ~i
....~ 9 ~ .... :~ii:iii:~!i~ ,;:ii'?i~i~i,~i? ~ ~;~''~L~
Fig. 1. Marked cervical hypertrichosis in proband. Erythematous papule within lesion represents a biopsy site.
6
I~1 LEGENO
[].o, .... ,~...~,,oo,o. -|
Fig. 2. Pedigree of patients with cervical hypertrichosis and underlying kyphoscoliosis.
A careful physical examination revealed that m addition to the patch of cervical hypertrichosis, the patient had grossly evident kyphoseoliosis that had not previously been diagnosed. A complete cutaneous examination did not reveal any stigmata of neurofibromatosis and was otherwise normal. A neurologic examination did not demonstrate evidence of spasticity, sensory
Fig. 3. Moderate cervical hypertrichosis in the grandson of the proband.
changes, or reflex differences. The skeletal examination was otherwise normal. One of the proband's daughters and a son of that daughter were available for examination. Both patients gave an identical history of congenital hypertriehosis confined to the cervical area. The daughter reported an absence of neck or back pain, whereas the grandson admitted to vague back pains that were attributed to a new job involving the stocking of shelves. Physical examination of the daughter revealed cervical hypertrichosis, which was kept trimmed for cosmetic reasons. The grandson had cervical hypertrichosis that was less extensive than that of the proband (Fig. 3). Grossly evident kyphoscoliosis was readily appreciable in both family members. No additional cutaneous, skeletal, or neurologie abnormalities were detected. Additional evaluations included radiologic and orthopedic examinations of all three affected family members and a skin biopsy of the affected area of the proband. Marked kyphosis (Fig. 4) and scoliosis (Fig. 5) were confirmed in all three family members by both the radiologic and orthopedic examinations, without evidence of spina bifida, meningocele, or diasteomatemyelia. A 4 mm punch biopsy specimen of the area of
Volume 20 Number 6 June 1989
Familial cervical hypertrichosis with kyphoscolioxis
1071
Fig. 4. Marked kyphosis in the grandson of the proband. hypertrichosis in the proband was unremarkable except for the presence of normal-appearing terminal hairs. DISCUSSION
Fig. 5. Marked scoliosis in the grandson of the proband.
Localized hypertrichosis generally can be divided into acquired and congenital forms. Acquired localized hypertrichosis has been reported to occur in response to local trauma, chronic inflammation, cutaneous hyperemia, peripheral neuropathy, pretibial myxedema, and topical medications. Forms of trauma that have been reported to induce hypertrichosis include scars, vaccination sites, sites of chronic friction, thrombophlebitis, stasis dermatitis, scratching, x-rays, and ultraviolet lights. The pathogenesis of this phenomenon has not been elucidated, but the common denominator appears to be cutaneous hyperemia. The mechanism by which peripheral neuropathy and plaster casts produce localized hypertrichosis is less well understood, but it has been suggested that a reduction in trauma allows for prolonged hair growth) Experimental studies in animal models have demonstrated that acid mucopolysaccharides are capable of stimulating hair growth. 4 Because pretibial myxedema is characterized by abundant dermal acid mucopolysaccharides, it has been postulated that
this is the mechanism by which localized hypertrichosis occurs in this disorder. Several topical medications, including corticosteroids, androgenic hormones, methoxypsoralen, and minoxidil, have been reported to produce acquired hypertrichosis? Localized congenital hypertrichosis typically occurs in association with other cutaneous abnormalities (Table I) such as congenital nevocellular nevus, Becker's nevus, or linear epidermal nevus? Localized congenital hypertrichosis, however, also may occur in apparently normal skin as in our cases. This almost invariably occurs overlying the spinal cord although extraspinal locations also have been described. Extraspinal localized congenital hypertrichosis has been referred to as nevoid circumscribed hypertrichosis? Congenital spinal cord hypertrichosis is most commonly located over the sacral area (faun tail) but also may be seen over the lumbar, thoracic, or even cervical areas as in our cases. Affected women
1072
Reed et al.
Table I. Differential diagnosis of congenital localized hypertrichosis
Journal of tile American Academy of Dermatology Table II. Defects associated with congenital spinal cord hypertrichosis
Becker's nevus Congenital nevocellular nevus Congenital spinal cord hypertrichosis Familial hypertrichosis of the palms and soles Linear epidermal nevus Nevoid circumscribed hypertrichosis
Chest deformities Diastematomyelia Foot deformities Kyphosis Meningocoele Scoliosis Spina bifida
predominate over affected men by a ratio of 4: 1. This increased hair growth is evident at birth although it may be so subtle as to go unnoticed for several years. The importance of this cutaneous marker is that it frequently is associated with underlying defects, including meningocoele, spina bifida, diastematomyelia, scoliosis, kyphosis, foot abnormalities, and deformities of the chest (Table II). Although some defects m a y be obvious, others may be more subtle as in our cases. Failure to recognize diastematomyel_ia, which is a splitting of the spinal cord through which a bony spur or fibrous band passes, may result in damage to the cord as the child grows. This condition is surgically correctable, and it should be diagnosed as early as possible to prevent irreversible damage to the spinal cord. 1'6 Similarly, although kyphoscoliosis as seen in our cases is less common, it should be detected as early as possible and evaluated by an orthopedic surgeon for possible surgical intervention. In our pedigree, all examined members had undiagnosed kyphoscoliosis of varying degrees of severity. The mechanism by which hypertrichosis arising from the ectoderm develops overlying bony abnormalities that are of mesodermal origin have not been elucidated. However, inasmuch as experimental animal studies have demonstrated that fibroblasts are of mesodermal origin and that fibroblasts compose the dermal hair papillae capable of inducing hair formation, it is possible that these may also be abnormal. 7 It also is possible that hypertrichosis is being produced by a low degree of cutaneous hyperemia. Our cases are particularly interesting from several standpoints. First, the pedigree suggests a clear-cut autosomal dominant pattern of inheritance. Localized congenital hypertrichosis overlying the spine characteristically occurs in a sporadic fashion. We were not able to find similar cases in the medical literature except for a pedigree of
patients with localized hypertrichosis of the palms and soles? Interestingly, two of the four patients in this family also had mild bony abnormalities of the extremities. All patients with spinal hypertrichosis should have a careful family history taken to determine if it is sporadic or inherited. Second, clinically, cervical hypertrichosis is extremely rare, being the most uncommon form of spinal hypertrichosis. Finally, all of our patients had associated kyphoscoliosis without other associated bony defects. Cervical hypertrichosis may represent a specific cutaneous marker for kyphoscoliosis. Additional case reports or a series of patients would be needed to substantiate this association. In summary, we have presented a pedigree of familial cervical hypertrichosis associated with underlying kyphoscoliosis. We suggest t h a t all patients with this cutaneous marker should have a careful family history taken and should undergo radiologic and orthopedic examination to rule out underlying skeletal defects. REFERENCES 1. Thursfield WRR, Ross AA. Faun tail (sacral hirsuties) and diastematomyelia.Br J Dermatol 1961;73:328-36. ~2. McCarthy LE. Diagnosisand treatment of diseases of the hair. St. Louis: CV Mosby, 1941:21I-3. 3. Munro DD, Darley CR. Hair. In: Fitzpatrick TB, Eisen AZ, Wolff K, et al., eds. Dermatologyin general medicine. 2nd ed. New York: McGraw-Hill, 1979:412-4. 4. MeyerK, Kaplan D, SteiglederGK, et al. Effect of acid mueopolysaccharideson hair growth in the rabbit. Proc Soc Exp Biol Med 1961;108:59-63. 5. Ebling FJ, Rook A. Hair. In: Rook A, Wilkinson D, Ebling F, eds. Textbook of dermatology.3rd ed. Oxford: Blackwell, I979:1753-4. 6. Eid K, Hochberg J, Saunders DE. Skin abnormalities of the back in diastematomyelia. Plast Reconstr Surg 1979;63:534-9. 7. Kollar EJ. The induction of hair folliclesby embryonic dermal papillae. J Invest Dermatol 1970;55:374-8. 8. JacksonCE, Callies QC, Krull EA, et al. Hairy cutaneous malformations of palms and soles. Arch Dermatol 1975;111:1146-9.
Thrombotic skin disease: Marker of anticardiolipin syndrome
19. Pizzo SV, Murray JC, Gonias SL. Atrophic blanche: a disorder associated with defective release of tissue plasminogen activator. Arch Pathol Lab Med 1986;110: 517-9. 20. Drucker DR, Duncan WC. Antiplatelet therapy in atrophie blanche and livedo vasculitis. J AM ACADDURMA'rOL 1978;7:359-63. 21. Asherson RA, Marris EN, Gharani AE. Arterial occlusions associated with antibodies to cardiolipln. Arthritis Rheum 1985;28(suppl):589.
22. Sontheimer RD. The anticardiolipin syndrome: a new way to slice an old pie, or a new pie to slice? Arch Dermatol 1987;123:590-5. 23. Ingran SB, Goodnight SM, Bennett RM. An unusual syndrome of a devastating noninflammatory vasculopathy associated with anticardiolipin antibodies: report of 2 cases. Arthritis Rheum 1987;30:1167-72. 24. Robboy ST, Mimh MC, Colman RW, et al. The skin in disseminated intravascular coagulation. Br J Dermatol 1973;88:221-9.
Familial cervical hypertrichosis with underlying kyphoscoliosis Oliver M. Reed, MAJ, MCr J. Ramsey Mellette, Jr., COL, MC, b and James E. Fitzpatrick, LTC, M C u Ft. Jackson, South Carolina, and Aurora, Colorado A family with congenital localized hypertrichosis transmitted in an autosomal dominant pattern is presented. The excessive hair growth was localized to the cervical region and was associated with underlying kyphoscoliosis. No additional cutaneous or skeletal abnormalities were identified. To our knowledge these are the first cases of familial congenital cervical hypertrichosis associated with underlying kyphoscoliosis reported in the literature. (J AM AcAo DERMAVOL1989;20:1069-72.)
Congenital localized hypertrichosis most commonly presents as an abnormal growth of hair overlying the spine. This defect usually is located in the sacral area, producing a "faun tail," although it also has been reported in the lumbar, thoracic, or even cervical regions. 1 Localized hypertrichosis, overlying the spine, typically occurs in a sporadic fashion without evidence of a specific genetic pattern of inheritance. Congenital localized hypertrichosis is an important cutaneous marker, which From the DermatologyService, Department of Medicine, Montcrief Army Hospital," and DermatologyService, Department of Medicine, FitzsimonsArmy Medical Center? Accepted for publicationMay 31, 1988. The opinions or assertions contaiiled herein are the views of the authors and are not to be considered as reflectingthe views of the Department of the Army or the Departmentof Defense. Reprint requests: James E. Fitzpatrick, MD, Dermatology Service, Department of Medicine,FitzsimonsArmy Medical Center, Aurora, CO 80045-6000. *Now at the Pinebrook Regional Medical Center, Brooksville, FL 34613.
m a y indicate underlying skeletal or neural abnormalities? ,2 Herein we present a case of familial congenital hypertrichosis localized to the cervical region with associated underlying kyphoscoliosis. This is the first reported pedigree in which this association has been inherited in an autosomal dominant manner. CASE REPORT
A 63-year-old white woman was seen at the dermatology clinic for evaluation and possible removal of an acquired nevoceUular nevus located on the back. During the cutaneous examination a patch of long, dark hair localized to the cervical area was noted (Fig. 1). A more detailed history revealed that this condition had been present since birth, was not associated with any other abnormalities, and was present in several additional family members. Specifically, the patient's mother, one brother, one daughter, and two grandsons were similarly affected (Fig. 2). The patient had no history of cervical nor hack pain.
1069
1070
Journal of the American Academy of Derma tology
Reed et al.
' 9
...... :~: ~ '~:~'~~"~:?~"~:~ ':;))~!i~!~'ii~i~'~i~!: ~84i(!84184184184 ' ~i
....~ 9 ~ .... :~ii:iii:~!i~ ,;:ii'?i~i~i,~i? ~ ~;~''~L~
Fig. 1. Marked cervical hypertrichosis in proband. Erythematous papule within lesion represents a biopsy site.
6
I~1 LEGENO
[].o, .... ,~...~,,oo,o. -|
Fig. 2. Pedigree of patients with cervical hypertrichosis and underlying kyphoscoliosis.
A careful physical examination revealed that m addition to the patch of cervical hypertrichosis, the patient had grossly evident kyphoseoliosis that had not previously been diagnosed. A complete cutaneous examination did not reveal any stigmata of neurofibromatosis and was otherwise normal. A neurologic examination did not demonstrate evidence of spasticity, sensory
Fig. 3. Moderate cervical hypertrichosis in the grandson of the proband.
changes, or reflex differences. The skeletal examination was otherwise normal. One of the proband's daughters and a son of that daughter were available for examination. Both patients gave an identical history of congenital hypertriehosis confined to the cervical area. The daughter reported an absence of neck or back pain, whereas the grandson admitted to vague back pains that were attributed to a new job involving the stocking of shelves. Physical examination of the daughter revealed cervical hypertrichosis, which was kept trimmed for cosmetic reasons. The grandson had cervical hypertrichosis that was less extensive than that of the proband (Fig. 3). Grossly evident kyphoscoliosis was readily appreciable in both family members. No additional cutaneous, skeletal, or neurologie abnormalities were detected. Additional evaluations included radiologic and orthopedic examinations of all three affected family members and a skin biopsy of the affected area of the proband. Marked kyphosis (Fig. 4) and scoliosis (Fig. 5) were confirmed in all three family members by both the radiologic and orthopedic examinations, without evidence of spina bifida, meningocele, or diasteomatemyelia. A 4 mm punch biopsy specimen of the area of
Volume 20 Number 6 June 1989
Familial cervical hypertrichosis with kyphoscolioxis
1071
Fig. 4. Marked kyphosis in the grandson of the proband. hypertrichosis in the proband was unremarkable except for the presence of normal-appearing terminal hairs. DISCUSSION
Fig. 5. Marked scoliosis in the grandson of the proband.
Localized hypertrichosis generally can be divided into acquired and congenital forms. Acquired localized hypertrichosis has been reported to occur in response to local trauma, chronic inflammation, cutaneous hyperemia, peripheral neuropathy, pretibial myxedema, and topical medications. Forms of trauma that have been reported to induce hypertrichosis include scars, vaccination sites, sites of chronic friction, thrombophlebitis, stasis dermatitis, scratching, x-rays, and ultraviolet lights. The pathogenesis of this phenomenon has not been elucidated, but the common denominator appears to be cutaneous hyperemia. The mechanism by which peripheral neuropathy and plaster casts produce localized hypertrichosis is less well understood, but it has been suggested that a reduction in trauma allows for prolonged hair growth) Experimental studies in animal models have demonstrated that acid mucopolysaccharides are capable of stimulating hair growth. 4 Because pretibial myxedema is characterized by abundant dermal acid mucopolysaccharides, it has been postulated that
this is the mechanism by which localized hypertrichosis occurs in this disorder. Several topical medications, including corticosteroids, androgenic hormones, methoxypsoralen, and minoxidil, have been reported to produce acquired hypertrichosis? Localized congenital hypertrichosis typically occurs in association with other cutaneous abnormalities (Table I) such as congenital nevocellular nevus, Becker's nevus, or linear epidermal nevus? Localized congenital hypertrichosis, however, also may occur in apparently normal skin as in our cases. This almost invariably occurs overlying the spinal cord although extraspinal locations also have been described. Extraspinal localized congenital hypertrichosis has been referred to as nevoid circumscribed hypertrichosis? Congenital spinal cord hypertrichosis is most commonly located over the sacral area (faun tail) but also may be seen over the lumbar, thoracic, or even cervical areas as in our cases. Affected women
1072
Reed et al.
Table I. Differential diagnosis of congenital localized hypertrichosis
Journal of tile American Academy of Dermatology Table II. Defects associated with congenital spinal cord hypertrichosis
Becker's nevus Congenital nevocellular nevus Congenital spinal cord hypertrichosis Familial hypertrichosis of the palms and soles Linear epidermal nevus Nevoid circumscribed hypertrichosis
Chest deformities Diastematomyelia Foot deformities Kyphosis Meningocoele Scoliosis Spina bifida
predominate over affected men by a ratio of 4: 1. This increased hair growth is evident at birth although it may be so subtle as to go unnoticed for several years. The importance of this cutaneous marker is that it frequently is associated with underlying defects, including meningocoele, spina bifida, diastematomyelia, scoliosis, kyphosis, foot abnormalities, and deformities of the chest (Table II). Although some defects m a y be obvious, others may be more subtle as in our cases. Failure to recognize diastematomyel_ia, which is a splitting of the spinal cord through which a bony spur or fibrous band passes, may result in damage to the cord as the child grows. This condition is surgically correctable, and it should be diagnosed as early as possible to prevent irreversible damage to the spinal cord. 1'6 Similarly, although kyphoscoliosis as seen in our cases is less common, it should be detected as early as possible and evaluated by an orthopedic surgeon for possible surgical intervention. In our pedigree, all examined members had undiagnosed kyphoscoliosis of varying degrees of severity. The mechanism by which hypertrichosis arising from the ectoderm develops overlying bony abnormalities that are of mesodermal origin have not been elucidated. However, inasmuch as experimental animal studies have demonstrated that fibroblasts are of mesodermal origin and that fibroblasts compose the dermal hair papillae capable of inducing hair formation, it is possible that these may also be abnormal. 7 It also is possible that hypertrichosis is being produced by a low degree of cutaneous hyperemia. Our cases are particularly interesting from several standpoints. First, the pedigree suggests a clear-cut autosomal dominant pattern of inheritance. Localized congenital hypertrichosis overlying the spine characteristically occurs in a sporadic fashion. We were not able to find similar cases in the medical literature except for a pedigree of
patients with localized hypertrichosis of the palms and soles? Interestingly, two of the four patients in this family also had mild bony abnormalities of the extremities. All patients with spinal hypertrichosis should have a careful family history taken to determine if it is sporadic or inherited. Second, clinically, cervical hypertrichosis is extremely rare, being the most uncommon form of spinal hypertrichosis. Finally, all of our patients had associated kyphoscoliosis without other associated bony defects. Cervical hypertrichosis may represent a specific cutaneous marker for kyphoscoliosis. Additional case reports or a series of patients would be needed to substantiate this association. In summary, we have presented a pedigree of familial cervical hypertrichosis associated with underlying kyphoscoliosis. We suggest t h a t all patients with this cutaneous marker should have a careful family history taken and should undergo radiologic and orthopedic examination to rule out underlying skeletal defects. REFERENCES 1. Thursfield WRR, Ross AA. Faun tail (sacral hirsuties) and diastematomyelia.Br J Dermatol 1961;73:328-36. ~2. McCarthy LE. Diagnosisand treatment of diseases of the hair. St. Louis: CV Mosby, 1941:21I-3. 3. Munro DD, Darley CR. Hair. In: Fitzpatrick TB, Eisen AZ, Wolff K, et al., eds. Dermatologyin general medicine. 2nd ed. New York: McGraw-Hill, 1979:412-4. 4. MeyerK, Kaplan D, SteiglederGK, et al. Effect of acid mueopolysaccharideson hair growth in the rabbit. Proc Soc Exp Biol Med 1961;108:59-63. 5. Ebling FJ, Rook A. Hair. In: Rook A, Wilkinson D, Ebling F, eds. Textbook of dermatology.3rd ed. Oxford: Blackwell, I979:1753-4. 6. Eid K, Hochberg J, Saunders DE. Skin abnormalities of the back in diastematomyelia. Plast Reconstr Surg 1979;63:534-9. 7. Kollar EJ. The induction of hair folliclesby embryonic dermal papillae. J Invest Dermatol 1970;55:374-8. 8. JacksonCE, Callies QC, Krull EA, et al. Hairy cutaneous malformations of palms and soles. Arch Dermatol 1975;111:1146-9.