Figure 1.
An 83-year-old Caribbean female presented with multiple lesions on her hands and feet that appeared about 2 years prior to her presentation (Figure 1).
Physical examination revealed numerous annular papules with a firm hyperkeratotic rim on the medial sides of both feet and the palmar creases ranging from 2 mm to 1 cm in diameter. On further questioning, she mentioned that the lesions started as small papules on her feet, which slowly increased in diameter. Pitting eventually developed in the center of each lesion, but she admitted to occasionally picking at the lesions.
What is Your Diagnosis?
Answer on page 2
{{pagebreak}}
Diagnosis: Punctate Palmoplantar Keratoderma
Palmoplantar keratodermas (PPKs) encompass a diverse group of hereditary and acquired disorders. They are characterized by hyperkeratosis of the palms and soles, and are further subdivided into diffuse, focal and punctate. In the past century, there have been multiple variants of punctate palmoplantar keratodermas (PPPKs) described, but due to imprecise terminology and redundant nomenclature, there is a lack of proper classification of this entity.1,2
Clinical Features
PPPKs are characterized by multiple 1 mm to 1 cm papules on the palms and soles, which can begin as firm translucent papules. There is occasionally a central keratotic core, which can leave a depression when removed, consistent with the history from our patient (Figure 1).
Of note, keratosis punctata of the palmar creases, as seen in our patient (Figure 2), can commonly be a sole finding in dark-skinned patients.3 Clinically, this acquired variant of PPPK cannot be distinguished definitively from porokeratosis palmaris et plantaris.
Figure 2. Crateriform pits in palmar creases seen in our patient.
The main histopathologic feature which distinguishes the 2 entities is a compact column of orthokeratosis seen in the former diagnosis, whereas angled columns of parakeratosis with underlying necrotic keratinocytes are seen the latter.
This finding is demonstrated in Figure 3. Hypergranulosis, acanthosis and a sparse perivascular lymphocytic infiltrate can also be seen in PPPK.4
Figure 3. Histopathology of a crateriform papule displaying columns of compact orthokeratosis, acanthosis and mild hypergranulosis. Note the lack of a cornoid lamella as seen in porokeratosis.
Differential Diagnosis
The main differential diagnosis of PPPK, as stated in our case, is porokeratosis palmaris and plantaris. Given her palmoplantar pitting, lower on the differential could be basal cell nevus syndrome, basaloid follicular hamartoma syndrome, Darier disease, arsenic-induced palmoplantar hyperkeratosis and calluses.
Other punctate types of PPK that can be considered based on location and size of lesions include acrokeratoelastoidosis and focal acral hyperkeratosis.
Genetics
Type 1 PPPK, also known as Buschke-Fischer-Brauer, has been shown to be an autosomal dominant trait, but sporadic cases can also be seen. The disease locus for this variant has recently been linked to 15q22.2-15q22.31 and 8q24.13-8q24.21.5,6
Studies in Chinese patients have recently linked PPPK to mutations in the COL14A1 and the AAGAB gene.7-9
The literature also suggest that PPPK could be linked to various malignancies, including Hodgkin’s disease, renal, breast, pancreatic and colonic adenocarcinomas.9,10
The Buschke-Fischer-Brauer variant has also been linked to keratosis pilaris, widespread lentigo simplex, psoriasis and congenital dysplasia of the hip.7,11-14
Management
Treatment modalities are primarily anecdotal and symptomatic. Keratolytics are frequently employed to help soften the lesions. In patients with increased symptoms, topical and oral retinoids have been tried with variable success.15 Flattening and clearing of the lesions have been seen in a few case reports after 2 to 3 months of oral acitretin. 13,14
Our patient showed satisfactory softening and flattening of her lesions with 20% urea cream after 2 to 3 months.
Prognosis and Outcomes
PPPK is a benign skin condition, but as discussed has been rarely linked to certain malignancies. The lesions themselves do not warrant aggressive treatment. There is no report yet of spontaneous resolution.
Dr. Ding is a second year dermatology resident at the State University of New York at Downstate Medical Center in Brooklyn, NY.
Dr. Alapati is with the dermatology service at the Brooklyn Veterans Affairs Medical Center State University and dermatology department at the State University of New York at Downstate Medical Center in Brooklyn, NY.
Dr. Khachemoune, the Section Editor of Derm DX, is with the Department of Dermatology at the State University of New York Downstate in Brooklyn, NY.
Disclosure: The authors report no relevant financial relationships.
Acknowledgement: The authors thank Dr. Zitman, MD, at CW Bill Young VA for helping to obtain prior biopsy slides for review and for his review of the pathology slides with the authors.
References
1. Bolognia JL, Jorizzo JL, Rapini RP, eds. Dermatology. 2nd ed. St. Louis, MO: Mosby Elsevier; 2008.
2. Stevens HP, Kelsell DP, Bryant SP, et al. Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. literature survey and proposed updated classification of the keratodermas. Arch Dermatol. 1996;132(6):640-651.
3. Bourrat E, Cabotin PP, Baccard M, et al. Palmoplantar keratodermas in black patients (Fitzpatrick skin phototype 5-6) of African descent: a multicenter comparative and descriptive series. Br J Dermatol. 2011;165(1):219-21.
4. Rapini RP. Practical Dermatopathology. 2nd ed. Philadelphia, PA: Elsevier; 2012.
5. Gao M, Yang M, Li KL, et al. Refined localization of a punctate palmoplantar keratoderma gene to a 5.06-cM region of 15q22.2–15q22.31. Br J Dermatol. 2005;152(5):874-888.
6. Zhang XJ, Li M, Gao TW, et al. Identification of a locus for punctate palmoplantar keratodermas at chromosome 8q24.13-8q24.21. J Invest Dermatol 2004;122(5):1121-1125.
7. Eytan O, Sarig O, Israeli S, Mevorah B, Basel-Vanagaite L, Sprecher E. A novel splice-site mutation in the AAGAB gene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large family. Clin Exp Dermatol. 2013;39(2):182-186.
8. Guo BR, Zhang X, Chen G, et al. Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma. J Med Genet. 2012;49(9):563-568.
9. Cui HZ, Gao M, Wang W, et al. Six mutations in AAGAB confirm its pathogenic role in Chinese punctate palmoplantar keratoderma patients. J Invest Dermatol. 2013;133(11):2631-2634.
10. Stevens HP, Kelsell DP, Leigh IM, Ostlere LS, MacDermot KD, Rustin MH. Punctate palmoplantar keratoderma and malignancy in a four-generation family. Br J Dermatol. 1996;134(4):720-726.
11. Bennion SD, Patterson JW. Keratosis punctate palmaris et plantaris and adenocarcinoma of the colon. A possible familial association of punctate kertoderma and gastrointestinal malignancy. J Am Acad Dermatol. 1984;10(4):587-591.
12. Kumari R, Thappa D. Keratosis palmoplantaris punctata (Buschke-Fischer-Brauer) with keratosis pilaris. Indian J Dermatol. 2006;51:223-224.
13. Erkek E, Erdogan S, Tuncez F, et al. Type I hereditary punctate keratoderma associated with widespread lentigo simplex and successfully treated with low-dose oral acitretin. Arch Dermatol. 2006;142(8):1076-1077.
14. Al-Mutairi N, Joshi A, Nour-Eldin O. Punctate palmoplantar keratoderma (Buschke-Fischer-Brauer disease) with psoriasis: a rare association showing excellent response to acitretin. J Drugs Dermatol. 2005;4(5):627-634.
15. Kong MS, Harford R, O’Neill JT. Keratosis punctata palmoplantaris controlled with topical retinoids: a case report and review of the literature. Cutis. 2004;74(3):173-179.
Diagnosis: Punctate Palmoplantar Keratoderma
Figure 1.
An 83-year-old Caribbean female presented with multiple lesions on her hands and feet that appeared about 2 years prior to her presentation (Figure 1).
Physical examination revealed numerous annular papules with a firm hyperkeratotic rim on the medial sides of both feet and the palmar creases ranging from 2 mm to 1 cm in diameter. On further questioning, she mentioned that the lesions started as small papules on her feet, which slowly increased in diameter. Pitting eventually developed in the center of each lesion, but she admitted to occasionally picking at the lesions.
What is Your Diagnosis?
Answer on page 2
{{pagebreak}}
Diagnosis: Punctate Palmoplantar Keratoderma
Palmoplantar keratodermas (PPKs) encompass a diverse group of hereditary and acquired disorders. They are characterized by hyperkeratosis of the palms and soles, and are further subdivided into diffuse, focal and punctate. In the past century, there have been multiple variants of punctate palmoplantar keratodermas (PPPKs) described, but due to imprecise terminology and redundant nomenclature, there is a lack of proper classification of this entity.1,2
Clinical Features
PPPKs are characterized by multiple 1 mm to 1 cm papules on the palms and soles, which can begin as firm translucent papules. There is occasionally a central keratotic core, which can leave a depression when removed, consistent with the history from our patient (Figure 1).
Of note, keratosis punctata of the palmar creases, as seen in our patient (Figure 2), can commonly be a sole finding in dark-skinned patients.3 Clinically, this acquired variant of PPPK cannot be distinguished definitively from porokeratosis palmaris et plantaris.
Figure 2. Crateriform pits in palmar creases seen in our patient.
The main histopathologic feature which distinguishes the 2 entities is a compact column of orthokeratosis seen in the former diagnosis, whereas angled columns of parakeratosis with underlying necrotic keratinocytes are seen the latter.
This finding is demonstrated in Figure 3. Hypergranulosis, acanthosis and a sparse perivascular lymphocytic infiltrate can also be seen in PPPK.4
Figure 3. Histopathology of a crateriform papule displaying columns of compact orthokeratosis, acanthosis and mild hypergranulosis. Note the lack of a cornoid lamella as seen in porokeratosis.
Differential Diagnosis
The main differential diagnosis of PPPK, as stated in our case, is porokeratosis palmaris and plantaris. Given her palmoplantar pitting, lower on the differential could be basal cell nevus syndrome, basaloid follicular hamartoma syndrome, Darier disease, arsenic-induced palmoplantar hyperkeratosis and calluses.
Other punctate types of PPK that can be considered based on location and size of lesions include acrokeratoelastoidosis and focal acral hyperkeratosis.
Genetics
Type 1 PPPK, also known as Buschke-Fischer-Brauer, has been shown to be an autosomal dominant trait, but sporadic cases can also be seen. The disease locus for this variant has recently been linked to 15q22.2-15q22.31 and 8q24.13-8q24.21.5,6
Studies in Chinese patients have recently linked PPPK to mutations in the COL14A1 and the AAGAB gene.7-9
The literature also suggest that PPPK could be linked to various malignancies, including Hodgkin’s disease, renal, breast, pancreatic and colonic adenocarcinomas.9,10
The Buschke-Fischer-Brauer variant has also been linked to keratosis pilaris, widespread lentigo simplex, psoriasis and congenital dysplasia of the hip.7,11-14
Management
Treatment modalities are primarily anecdotal and symptomatic. Keratolytics are frequently employed to help soften the lesions. In patients with increased symptoms, topical and oral retinoids have been tried with variable success.15 Flattening and clearing of the lesions have been seen in a few case reports after 2 to 3 months of oral acitretin. 13,14
Our patient showed satisfactory softening and flattening of her lesions with 20% urea cream after 2 to 3 months.
Prognosis and Outcomes
PPPK is a benign skin condition, but as discussed has been rarely linked to certain malignancies. The lesions themselves do not warrant aggressive treatment. There is no report yet of spontaneous resolution.
Dr. Ding is a second year dermatology resident at the State University of New York at Downstate Medical Center in Brooklyn, NY.
Dr. Alapati is with the dermatology service at the Brooklyn Veterans Affairs Medical Center State University and dermatology department at the State University of New York at Downstate Medical Center in Brooklyn, NY.
Dr. Khachemoune, the Section Editor of Derm DX, is with the Department of Dermatology at the State University of New York Downstate in Brooklyn, NY.
Disclosure: The authors report no relevant financial relationships.
Acknowledgement: The authors thank Dr. Zitman, MD, at CW Bill Young VA for helping to obtain prior biopsy slides for review and for his review of the pathology slides with the authors.
References
1. Bolognia JL, Jorizzo JL, Rapini RP, eds. Dermatology. 2nd ed. St. Louis, MO: Mosby Elsevier; 2008.
2. Stevens HP, Kelsell DP, Bryant SP, et al. Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. literature survey and proposed updated classification of the keratodermas. Arch Dermatol. 1996;132(6):640-651.
3. Bourrat E, Cabotin PP, Baccard M, et al. Palmoplantar keratodermas in black patients (Fitzpatrick skin phototype 5-6) of African descent: a multicenter comparative and descriptive series. Br J Dermatol. 2011;165(1):219-21.
4. Rapini RP. Practical Dermatopathology. 2nd ed. Philadelphia, PA: Elsevier; 2012.
5. Gao M, Yang M, Li KL, et al. Refined localization of a punctate palmoplantar keratoderma gene to a 5.06-cM region of 15q22.2–15q22.31. Br J Dermatol. 2005;152(5):874-888.
6. Zhang XJ, Li M, Gao TW, et al. Identification of a locus for punctate palmoplantar keratodermas at chromosome 8q24.13-8q24.21. J Invest Dermatol 2004;122(5):1121-1125.
7. Eytan O, Sarig O, Israeli S, Mevorah B, Basel-Vanagaite L, Sprecher E. A novel splice-site mutation in the AAGAB gene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large family. Clin Exp Dermatol. 2013;39(2):182-186.
8. Guo BR, Zhang X, Chen G, et al. Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma. J Med Genet. 2012;49(9):563-568.
9. Cui HZ, Gao M, Wang W, et al. Six mutations in AAGAB confirm its pathogenic role in Chinese punctate palmoplantar keratoderma patients. J Invest Dermatol. 2013;133(11):2631-2634.
10. Stevens HP, Kelsell DP, Leigh IM, Ostlere LS, MacDermot KD, Rustin MH. Punctate palmoplantar keratoderma and malignancy in a four-generation family. Br J Dermatol. 1996;134(4):720-726.
11. Bennion SD, Patterson JW. Keratosis punctate palmaris et plantaris and adenocarcinoma of the colon. A possible familial association of punctate kertoderma and gastrointestinal malignancy. J Am Acad Dermatol. 1984;10(4):587-591.
12. Kumari R, Thappa D. Keratosis palmoplantaris punctata (Buschke-Fischer-Brauer) with keratosis pilaris. Indian J Dermatol. 2006;51:223-224.
13. Erkek E, Erdogan S, Tuncez F, et al. Type I hereditary punctate keratoderma associated with widespread lentigo simplex and successfully treated with low-dose oral acitretin. Arch Dermatol. 2006;142(8):1076-1077.
14. Al-Mutairi N, Joshi A, Nour-Eldin O. Punctate palmoplantar keratoderma (Buschke-Fischer-Brauer disease) with psoriasis: a rare association showing excellent response to acitretin. J Drugs Dermatol. 2005;4(5):627-634.
15. Kong MS, Harford R, O’Neill JT. Keratosis punctata palmoplantaris controlled with topical retinoids: a case report and review of the literature. Cutis. 2004;74(3):173-179.
Diagnosis: Punctate Palmoplantar Keratoderma
Figure 1.
An 83-year-old Caribbean female presented with multiple lesions on her hands and feet that appeared about 2 years prior to her presentation (Figure 1).
Physical examination revealed numerous annular papules with a firm hyperkeratotic rim on the medial sides of both feet and the palmar creases ranging from 2 mm to 1 cm in diameter. On further questioning, she mentioned that the lesions started as small papules on her feet, which slowly increased in diameter. Pitting eventually developed in the center of each lesion, but she admitted to occasionally picking at the lesions.
What is Your Diagnosis?
Answer on page 2
{{pagebreak}}
Diagnosis: Punctate Palmoplantar Keratoderma
Palmoplantar keratodermas (PPKs) encompass a diverse group of hereditary and acquired disorders. They are characterized by hyperkeratosis of the palms and soles, and are further subdivided into diffuse, focal and punctate. In the past century, there have been multiple variants of punctate palmoplantar keratodermas (PPPKs) described, but due to imprecise terminology and redundant nomenclature, there is a lack of proper classification of this entity.1,2
Clinical Features
PPPKs are characterized by multiple 1 mm to 1 cm papules on the palms and soles, which can begin as firm translucent papules. There is occasionally a central keratotic core, which can leave a depression when removed, consistent with the history from our patient (Figure 1).
Of note, keratosis punctata of the palmar creases, as seen in our patient (Figure 2), can commonly be a sole finding in dark-skinned patients.3 Clinically, this acquired variant of PPPK cannot be distinguished definitively from porokeratosis palmaris et plantaris.
Figure 2. Crateriform pits in palmar creases seen in our patient.
The main histopathologic feature which distinguishes the 2 entities is a compact column of orthokeratosis seen in the former diagnosis, whereas angled columns of parakeratosis with underlying necrotic keratinocytes are seen the latter.
This finding is demonstrated in Figure 3. Hypergranulosis, acanthosis and a sparse perivascular lymphocytic infiltrate can also be seen in PPPK.4
Figure 3. Histopathology of a crateriform papule displaying columns of compact orthokeratosis, acanthosis and mild hypergranulosis. Note the lack of a cornoid lamella as seen in porokeratosis.
Differential Diagnosis
The main differential diagnosis of PPPK, as stated in our case, is porokeratosis palmaris and plantaris. Given her palmoplantar pitting, lower on the differential could be basal cell nevus syndrome, basaloid follicular hamartoma syndrome, Darier disease, arsenic-induced palmoplantar hyperkeratosis and calluses.
Other punctate types of PPK that can be considered based on location and size of lesions include acrokeratoelastoidosis and focal acral hyperkeratosis.
Genetics
Type 1 PPPK, also known as Buschke-Fischer-Brauer, has been shown to be an autosomal dominant trait, but sporadic cases can also be seen. The disease locus for this variant has recently been linked to 15q22.2-15q22.31 and 8q24.13-8q24.21.5,6
Studies in Chinese patients have recently linked PPPK to mutations in the COL14A1 and the AAGAB gene.7-9
The literature also suggest that PPPK could be linked to various malignancies, including Hodgkin’s disease, renal, breast, pancreatic and colonic adenocarcinomas.9,10
The Buschke-Fischer-Brauer variant has also been linked to keratosis pilaris, widespread lentigo simplex, psoriasis and congenital dysplasia of the hip.7,11-14
Management
Treatment modalities are primarily anecdotal and symptomatic. Keratolytics are frequently employed to help soften the lesions. In patients with increased symptoms, topical and oral retinoids have been tried with variable success.15 Flattening and clearing of the lesions have been seen in a few case reports after 2 to 3 months of oral acitretin. 13,14
Our patient showed satisfactory softening and flattening of her lesions with 20% urea cream after 2 to 3 months.
Prognosis and Outcomes
PPPK is a benign skin condition, but as discussed has been rarely linked to certain malignancies. The lesions themselves do not warrant aggressive treatment. There is no report yet of spontaneous resolution.
Dr. Ding is a second year dermatology resident at the State University of New York at Downstate Medical Center in Brooklyn, NY.
Dr. Alapati is with the dermatology service at the Brooklyn Veterans Affairs Medical Center State University and dermatology department at the State University of New York at Downstate Medical Center in Brooklyn, NY.
Dr. Khachemoune, the Section Editor of Derm DX, is with the Department of Dermatology at the State University of New York Downstate in Brooklyn, NY.
Disclosure: The authors report no relevant financial relationships.
Acknowledgement: The authors thank Dr. Zitman, MD, at CW Bill Young VA for helping to obtain prior biopsy slides for review and for his review of the pathology slides with the authors.
References
1. Bolognia JL, Jorizzo JL, Rapini RP, eds. Dermatology. 2nd ed. St. Louis, MO: Mosby Elsevier; 2008.
2. Stevens HP, Kelsell DP, Bryant SP, et al. Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. literature survey and proposed updated classification of the keratodermas. Arch Dermatol. 1996;132(6):640-651.
3. Bourrat E, Cabotin PP, Baccard M, et al. Palmoplantar keratodermas in black patients (Fitzpatrick skin phototype 5-6) of African descent: a multicenter comparative and descriptive series. Br J Dermatol. 2011;165(1):219-21.
4. Rapini RP. Practical Dermatopathology. 2nd ed. Philadelphia, PA: Elsevier; 2012.
5. Gao M, Yang M, Li KL, et al. Refined localization of a punctate palmoplantar keratoderma gene to a 5.06-cM region of 15q22.2–15q22.31. Br J Dermatol. 2005;152(5):874-888.
6. Zhang XJ, Li M, Gao TW, et al. Identification of a locus for punctate palmoplantar keratodermas at chromosome 8q24.13-8q24.21. J Invest Dermatol 2004;122(5):1121-1125.
7. Eytan O, Sarig O, Israeli S, Mevorah B, Basel-Vanagaite L, Sprecher E. A novel splice-site mutation in the AAGAB gene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large family. Clin Exp Dermatol. 2013;39(2):182-186.
8. Guo BR, Zhang X, Chen G, et al. Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma. J Med Genet. 2012;49(9):563-568.
9. Cui HZ, Gao M, Wang W, et al. Six mutations in AAGAB confirm its pathogenic role in Chinese punctate palmoplantar keratoderma patients. J Invest Dermatol. 2013;133(11):2631-2634.
10. Stevens HP, Kelsell DP, Leigh IM, Ostlere LS, MacDermot KD, Rustin MH. Punctate palmoplantar keratoderma and malignancy in a four-generation family. Br J Dermatol. 1996;134(4):720-726.
11. Bennion SD, Patterson JW. Keratosis punctate palmaris et plantaris and adenocarcinoma of the colon. A possible familial association of punctate kertoderma and gastrointestinal malignancy. J Am Acad Dermatol. 1984;10(4):587-591.
12. Kumari R, Thappa D. Keratosis palmoplantaris punctata (Buschke-Fischer-Brauer) with keratosis pilaris. Indian J Dermatol. 2006;51:223-224.
13. Erkek E, Erdogan S, Tuncez F, et al. Type I hereditary punctate keratoderma associated with widespread lentigo simplex and successfully treated with low-dose oral acitretin. Arch Dermatol. 2006;142(8):1076-1077.
14. Al-Mutairi N, Joshi A, Nour-Eldin O. Punctate palmoplantar keratoderma (Buschke-Fischer-Brauer disease) with psoriasis: a rare association showing excellent response to acitretin. J Drugs Dermatol. 2005;4(5):627-634.
15. Kong MS, Harford R, O’Neill JT. Keratosis punctata palmoplantaris controlled with topical retinoids: a case report and review of the literature. Cutis. 2004;74(3):173-179.
Diagnosis: Punctate Palmoplantar Keratoderma
