Joe R. Monroe, PA-C, MPAS

ANSWER
The correct answer is poliosis (choice “d”), which has been described as a reliable indicator of tuberous sclerosis when seen early in life.¹ Poliosis is the specific term for focal loss of color in scalp hair. Technically, this process is a form of hypomelanosis (choice “b”), although the latter is a more generic term used to refer to loss of pigment in any area. Graying (choice “a”) usually refers to uniform loss of hair color all over the scalp—albeit with focal accentuation over the temples, as opposed to the sharply demarcated areas of complete color loss seen in poliosis. Poliosis can be seen as a feature of vitiligo (choice “c”), but the latter usually also involves pigment loss elsewhere.

DISCUSSION/TREATMENT
Poliosis, which is often idiopathic, can be seen in a number of conditions besides tuberous sclerosis and vitiligo, including halo nevi of the scalp, alopecia areata (as hair regrows), and Waardenburg’s syndrome. As mentioned above, it can appear early in life as an indicator of tuberous sclerosis, particularly when coupled with involvement of adjacent dermatomal skin. This was likely the case with this patient. No permanent treatment exists for this problem.

REFERENCE
1. Apibal Y, Reakatanan W, Chunharas A. Poliosis as the first clue of tuberous sclerosis. Pediatr Dermatol. 2008;25(4):486-487.

ANSWER
The correct answer is poliosis (choice “d”), which has been described as a reliable indicator of tuberous sclerosis when seen early in life.¹ Poliosis is the specific term for focal loss of color in scalp hair. Technically, this process is a form of hypomelanosis (choice “b”), although the latter is a more generic term used to refer to loss of pigment in any area. Graying (choice “a”) usually refers to uniform loss of hair color all over the scalp—albeit with focal accentuation over the temples, as opposed to the sharply demarcated areas of complete color loss seen in poliosis. Poliosis can be seen as a feature of vitiligo (choice “c”), but the latter usually also involves pigment loss elsewhere.

DISCUSSION/TREATMENT
Poliosis, which is often idiopathic, can be seen in a number of conditions besides tuberous sclerosis and vitiligo, including halo nevi of the scalp, alopecia areata (as hair regrows), and Waardenburg’s syndrome. As mentioned above, it can appear early in life as an indicator of tuberous sclerosis, particularly when coupled with involvement of adjacent dermatomal skin. This was likely the case with this patient. No permanent treatment exists for this problem.

REFERENCE
1. Apibal Y, Reakatanan W, Chunharas A. Poliosis as the first clue of tuberous sclerosis. Pediatr Dermatol. 2008;25(4):486-487.

ANSWER
The correct answer is poliosis (choice “d”), which has been described as a reliable indicator of tuberous sclerosis when seen early in life.¹ Poliosis is the specific term for focal loss of color in scalp hair. Technically, this process is a form of hypomelanosis (choice “b”), although the latter is a more generic term used to refer to loss of pigment in any area. Graying (choice “a”) usually refers to uniform loss of hair color all over the scalp—albeit with focal accentuation over the temples, as opposed to the sharply demarcated areas of complete color loss seen in poliosis. Poliosis can be seen as a feature of vitiligo (choice “c”), but the latter usually also involves pigment loss elsewhere.

DISCUSSION/TREATMENT
Poliosis, which is often idiopathic, can be seen in a number of conditions besides tuberous sclerosis and vitiligo, including halo nevi of the scalp, alopecia areata (as hair regrows), and Waardenburg’s syndrome. As mentioned above, it can appear early in life as an indicator of tuberous sclerosis, particularly when coupled with involvement of adjacent dermatomal skin. This was likely the case with this patient. No permanent treatment exists for this problem.

REFERENCE
1. Apibal Y, Reakatanan W, Chunharas A. Poliosis as the first clue of tuberous sclerosis. Pediatr Dermatol. 2008;25(4):486-487.

ANSWER
Although this woman may end up having to see all of these specialists, she first needs confirmation of the suspected diagnosis: CREST syndrome, considered a variant of systemic sclerosis (aka scleroderma) and a condition marked by sclerotic transformation of virtually all the organs in and on the body. For more on this condition, see below.

The definitive diagnosis and expert management of this condition are generally considered the province of the rheumatologist, so choice “d” is the correct answer. Any of the other specialists, who often become involved in such cases early on, could likely identify this condition but would defer to rheumatology for definitive diagnosis and management.

DISCUSSION/TREATMENT
Systemic sclerosis (SSc) patients, like those with other rare conditions with protean manifestations, often go through long periods in which they see various specialists for each subset of symptoms—with a delay in arriving at a definitive, unifying diagnosis. This is a good example of the role played in such cases by dermatology, which is often able to “connect the dots” in patients with disparate complaints. Biopsy in such patients, for example, will show increased collagen deposition (among other changes), leading to heightened suspicion and confirmation by specific blood tests and expert clinical corroboration.

SSc affects approximately two million to 10 million people, almost four times as many women as men, and very few Asian patients. There are several variants of the condition, including cases of CREST in which skin changes are limited to the hands and face for decades before internal organs begin to be affected (if ever).
 
The CREST acronym stands for calcinosis (the scaly foci on our patient’s fingers), Raynaud’s phenomenon, esophageal dysmotility (due to collagen infiltration), sclerodactyly (sclerosis of finger skin), and telangiectasias (often on face and chest). CREST often starts, as in this case, with chronic edema of the hands, which gives way eventually to sclerodactyly and often to reabsorption of the bony tufts on distal digits. Dyschromia, particularly of the hands (as in this patient), is another common finding. SSc can also present with generalized pruritus.

SSc has a poor prognosis, progressing steadily as it begins to affect the lungs, liver, kidneys, and joints. Despite treatment, death may occur (most commonly from renal or respiratory failure).

ANSWER
Although this woman may end up having to see all of these specialists, she first needs confirmation of the suspected diagnosis: CREST syndrome, considered a variant of systemic sclerosis (aka scleroderma) and a condition marked by sclerotic transformation of virtually all the organs in and on the body. For more on this condition, see below.

The definitive diagnosis and expert management of this condition are generally considered the province of the rheumatologist, so choice “d” is the correct answer. Any of the other specialists, who often become involved in such cases early on, could likely identify this condition but would defer to rheumatology for definitive diagnosis and management.

DISCUSSION/TREATMENT
Systemic sclerosis (SSc) patients, like those with other rare conditions with protean manifestations, often go through long periods in which they see various specialists for each subset of symptoms—with a delay in arriving at a definitive, unifying diagnosis. This is a good example of the role played in such cases by dermatology, which is often able to “connect the dots” in patients with disparate complaints. Biopsy in such patients, for example, will show increased collagen deposition (among other changes), leading to heightened suspicion and confirmation by specific blood tests and expert clinical corroboration.

SSc affects approximately two million to 10 million people, almost four times as many women as men, and very few Asian patients. There are several variants of the condition, including cases of CREST in which skin changes are limited to the hands and face for decades before internal organs begin to be affected (if ever).
 
The CREST acronym stands for calcinosis (the scaly foci on our patient’s fingers), Raynaud’s phenomenon, esophageal dysmotility (due to collagen infiltration), sclerodactyly (sclerosis of finger skin), and telangiectasias (often on face and chest). CREST often starts, as in this case, with chronic edema of the hands, which gives way eventually to sclerodactyly and often to reabsorption of the bony tufts on distal digits. Dyschromia, particularly of the hands (as in this patient), is another common finding. SSc can also present with generalized pruritus.

SSc has a poor prognosis, progressing steadily as it begins to affect the lungs, liver, kidneys, and joints. Despite treatment, death may occur (most commonly from renal or respiratory failure).

ANSWER
Although this woman may end up having to see all of these specialists, she first needs confirmation of the suspected diagnosis: CREST syndrome, considered a variant of systemic sclerosis (aka scleroderma) and a condition marked by sclerotic transformation of virtually all the organs in and on the body. For more on this condition, see below.

The definitive diagnosis and expert management of this condition are generally considered the province of the rheumatologist, so choice “d” is the correct answer. Any of the other specialists, who often become involved in such cases early on, could likely identify this condition but would defer to rheumatology for definitive diagnosis and management.

DISCUSSION/TREATMENT
Systemic sclerosis (SSc) patients, like those with other rare conditions with protean manifestations, often go through long periods in which they see various specialists for each subset of symptoms—with a delay in arriving at a definitive, unifying diagnosis. This is a good example of the role played in such cases by dermatology, which is often able to “connect the dots” in patients with disparate complaints. Biopsy in such patients, for example, will show increased collagen deposition (among other changes), leading to heightened suspicion and confirmation by specific blood tests and expert clinical corroboration.

SSc affects approximately two million to 10 million people, almost four times as many women as men, and very few Asian patients. There are several variants of the condition, including cases of CREST in which skin changes are limited to the hands and face for decades before internal organs begin to be affected (if ever).
 
The CREST acronym stands for calcinosis (the scaly foci on our patient’s fingers), Raynaud’s phenomenon, esophageal dysmotility (due to collagen infiltration), sclerodactyly (sclerosis of finger skin), and telangiectasias (often on face and chest). CREST often starts, as in this case, with chronic edema of the hands, which gives way eventually to sclerodactyly and often to reabsorption of the bony tufts on distal digits. Dyschromia, particularly of the hands (as in this patient), is another common finding. SSc can also present with generalized pruritus.

SSc has a poor prognosis, progressing steadily as it begins to affect the lungs, liver, kidneys, and joints. Despite treatment, death may occur (most commonly from renal or respiratory failure).

ANSWER
The white, round spots seen in this lesion were entirely consistent with SK and were not misinterpreted (choice “a”). Since melanoma is not known to display this type of spot, choice “b” is also incorrect. Biopsy reports are occasionally wrong, of course, but the diagnosis of melanoma is fraught with such serious implications that the call is not made if specific criteria are not met. These include specific stains for that diagnosis, histologic findings, and the concurrence of multiple observers, so it is unlikely that the histologic diagnosis is incorrect (choice “d”).
This leaves the correct answer, choice “c,” discussed below.

DISCUSSION
There is truly no law saying that two lesions can’t appear in the same location—and as this case illustrates, it definitely happens. Had we performed additional biopsies, no doubt features of SK would have been seen in corroboration of the dermatoscopic findings.

This case also emphasizes another useful principle: Pay just as much attention to the owner as to the lesion itself. This patient was quite fair and sun-damaged, so any odd lesion he developed would be suspect, let alone one that looked like this.
One final thing to be learned from this case is that as useful as dermatoscopes can be, they still must take a backseat to common sense.

ANSWER
The white, round spots seen in this lesion were entirely consistent with SK and were not misinterpreted (choice “a”). Since melanoma is not known to display this type of spot, choice “b” is also incorrect. Biopsy reports are occasionally wrong, of course, but the diagnosis of melanoma is fraught with such serious implications that the call is not made if specific criteria are not met. These include specific stains for that diagnosis, histologic findings, and the concurrence of multiple observers, so it is unlikely that the histologic diagnosis is incorrect (choice “d”).
This leaves the correct answer, choice “c,” discussed below.

DISCUSSION
There is truly no law saying that two lesions can’t appear in the same location—and as this case illustrates, it definitely happens. Had we performed additional biopsies, no doubt features of SK would have been seen in corroboration of the dermatoscopic findings.

This case also emphasizes another useful principle: Pay just as much attention to the owner as to the lesion itself. This patient was quite fair and sun-damaged, so any odd lesion he developed would be suspect, let alone one that looked like this.
One final thing to be learned from this case is that as useful as dermatoscopes can be, they still must take a backseat to common sense.

ANSWER
The white, round spots seen in this lesion were entirely consistent with SK and were not misinterpreted (choice “a”). Since melanoma is not known to display this type of spot, choice “b” is also incorrect. Biopsy reports are occasionally wrong, of course, but the diagnosis of melanoma is fraught with such serious implications that the call is not made if specific criteria are not met. These include specific stains for that diagnosis, histologic findings, and the concurrence of multiple observers, so it is unlikely that the histologic diagnosis is incorrect (choice “d”).
This leaves the correct answer, choice “c,” discussed below.

DISCUSSION
There is truly no law saying that two lesions can’t appear in the same location—and as this case illustrates, it definitely happens. Had we performed additional biopsies, no doubt features of SK would have been seen in corroboration of the dermatoscopic findings.

This case also emphasizes another useful principle: Pay just as much attention to the owner as to the lesion itself. This patient was quite fair and sun-damaged, so any odd lesion he developed would be suspect, let alone one that looked like this.
One final thing to be learned from this case is that as useful as dermatoscopes can be, they still must take a backseat to common sense.

ANSWER
All of the above choices are correct and, in fact, were seen on this patient. These findings served to confirm the diagnosis of tuberous sclerosis.

DISCUSSION
Also called Bourneville’s disease or epiloia (an acronym for epilepsy, low intelligence, and adenoma sebaceum—all major findings in this disease), tuberous sclerosis (TS) occurs in one of 10,000 births and affects both genders equally. It is considered a genodermatosis, with 75% of cases related to spontaneous mutations and 25% to autosomal dominant transmission. Two separate genes have been identified.

The earliest skin finding in these patients is that of hypopigmented macules, especially the so-called mountain ash leaf spots typically seen on the trunk and extremities—better observed sometimes with the aid of a Wood’s lamp.

Another common early finding is that of seizures, occurring in 75% of TS patients with central nervous system lesions. Facial angiofibromas, called adenoma sebaceum, also appear in early childhood, increase during adolescence, and are permanent. About 80% of affected patients will eventually develop the connective tissue nevus called shagreen patch, which usually occurs on the low back.

Conical smooth papular projections originating from the nail folds of fingers and toes appear at puberty in a high percentage of TS patients and are permanent. Redundant and sometimes papular lesions are seen in the gingival mucosa. Numerous other signs of the disease—in lungs, heart, and bony tissue—have been described.

The acronym mentioned above, epiloia, has been largely abandoned, in part because it suggests that low intelligence with TS patients is inevitable. The truth is, many patients, such as this one, function quite normally, typifying the variable penetrance of the genetic changes so common to TS.

TREATMENT
The main focus for this patient is to get his seizures under control and arrange for proper follow-up, as well as genetic counseling. Unfortunately, there is no effective treatment for the facial lesions.

ANSWER
All of the above choices are correct and, in fact, were seen on this patient. These findings served to confirm the diagnosis of tuberous sclerosis.

DISCUSSION
Also called Bourneville’s disease or epiloia (an acronym for epilepsy, low intelligence, and adenoma sebaceum—all major findings in this disease), tuberous sclerosis (TS) occurs in one of 10,000 births and affects both genders equally. It is considered a genodermatosis, with 75% of cases related to spontaneous mutations and 25% to autosomal dominant transmission. Two separate genes have been identified.

The earliest skin finding in these patients is that of hypopigmented macules, especially the so-called mountain ash leaf spots typically seen on the trunk and extremities—better observed sometimes with the aid of a Wood’s lamp.

Another common early finding is that of seizures, occurring in 75% of TS patients with central nervous system lesions. Facial angiofibromas, called adenoma sebaceum, also appear in early childhood, increase during adolescence, and are permanent. About 80% of affected patients will eventually develop the connective tissue nevus called shagreen patch, which usually occurs on the low back.

Conical smooth papular projections originating from the nail folds of fingers and toes appear at puberty in a high percentage of TS patients and are permanent. Redundant and sometimes papular lesions are seen in the gingival mucosa. Numerous other signs of the disease—in lungs, heart, and bony tissue—have been described.

The acronym mentioned above, epiloia, has been largely abandoned, in part because it suggests that low intelligence with TS patients is inevitable. The truth is, many patients, such as this one, function quite normally, typifying the variable penetrance of the genetic changes so common to TS.

TREATMENT
The main focus for this patient is to get his seizures under control and arrange for proper follow-up, as well as genetic counseling. Unfortunately, there is no effective treatment for the facial lesions.

ANSWER
All of the above choices are correct and, in fact, were seen on this patient. These findings served to confirm the diagnosis of tuberous sclerosis.

DISCUSSION
Also called Bourneville’s disease or epiloia (an acronym for epilepsy, low intelligence, and adenoma sebaceum—all major findings in this disease), tuberous sclerosis (TS) occurs in one of 10,000 births and affects both genders equally. It is considered a genodermatosis, with 75% of cases related to spontaneous mutations and 25% to autosomal dominant transmission. Two separate genes have been identified.

The earliest skin finding in these patients is that of hypopigmented macules, especially the so-called mountain ash leaf spots typically seen on the trunk and extremities—better observed sometimes with the aid of a Wood’s lamp.

Another common early finding is that of seizures, occurring in 75% of TS patients with central nervous system lesions. Facial angiofibromas, called adenoma sebaceum, also appear in early childhood, increase during adolescence, and are permanent. About 80% of affected patients will eventually develop the connective tissue nevus called shagreen patch, which usually occurs on the low back.

Conical smooth papular projections originating from the nail folds of fingers and toes appear at puberty in a high percentage of TS patients and are permanent. Redundant and sometimes papular lesions are seen in the gingival mucosa. Numerous other signs of the disease—in lungs, heart, and bony tissue—have been described.

The acronym mentioned above, epiloia, has been largely abandoned, in part because it suggests that low intelligence with TS patients is inevitable. The truth is, many patients, such as this one, function quite normally, typifying the variable penetrance of the genetic changes so common to TS.

TREATMENT
The main focus for this patient is to get his seizures under control and arrange for proper follow-up, as well as genetic counseling. Unfortunately, there is no effective treatment for the facial lesions.