A 15-year-old male presented for evaluation of “bumps on the neck.” He mentioned that the lesions on his neck occasionally “fill with pus,” and are somewhat painful. This eruption was presumed to be of viral origin (herpetic); a culture obtained by his primary care physician was negative. He was treated at separate occasions with topical applications of salicylic acid, tretinoin/clindamycin combination gel as well as oral minocycline and doxycycline courses without significant improvement. His past medical history was significant for facial palsy since birth, without any developmental delays or other neurological disorders.
On physical examination, there were clusters of well-defined erythematous inflammatory papules, coalescing into a plaque (Figure 1). The size of the papules ranged between 5 mm to up to 10 mm, with central small white pustules and mild hemorrhagic crusting, localized to the right posterior neck. His face, chest and anterior neck were clear. A skin biopsy was performed.
What is Your Diagnosis?
See below.
Diagnosis: Elastosis Perforans Serpiginosa
Rania Agha, MD, and Julie S. Goldberg, MD
Originally described by Lutz in 1953, elastosis perforans serpiginosa (EPS) is a rare connective tissue cutaneous disorder of unknown etiology. Its hallmark is transepidermal elimination of abnormal elastic fibers, which manifests clinically as small, grouped hyperkeratotic papules in a serpiginous pattern.1,2
Although it is mostly asymptomatic, EPS can be associated with mild-to-moderate pruritus. Anatomically, it occurs predominantly on the head and neck.1,2
In 25% of cases, an underlying disorder, most commonly a connective tissue disorder, is associated with EPS. EPS is classified as idiopathic, reactive or drug (penicillamine)-induced.1-5
Reactive EPS is associated with Down syndrome (up to 1% of patients), Ehlers-Danlos syndrome, osteogenesis imperfecta, Marfan syndrome, Rothmund-Thomson syndrome and acrogeria. Patients with Wilson’s disease and cystinuria who are treated with penicillamine may develop penicillamine-induced EPS. D-penicillamine disrupts desmosine cross-links within elastin and affects about 1% of patients treated with this drug.5,6
Idiopathic EPS represents disease without associated Down syndrome or connective tissue disease.
Although it may occur in childhood or teenage years as presented in this case, EPS classically presents in the second decade of life (Figure 1). The male to female ratio is about 4.2,5
Clinical Presentation
The lesions appear as flesh colored or erythematous umbilicated papules in an arcuate or serpiginous pattern. The plaques may result in stellate-shape scarring after they clear. Some patients complain of mild pruritus, although most of them are asymptomatic. Patients with Down syndrome have a more severe EPS with a prolonged course, and it rarely can be generalized.1,2,5
The differential diagnosis includes acne, verruca, fungal and bacterial infections, perforating collagenomas, perforating granuloma annulare and any acquired perforating dermatoses.
Diagnosis
Diagnosis of EPS is based on clinical and histologic appearances. Histologically, there is transepidermal elimination of neutrophils and elastic fibers from the dermis through a perforating channel in the epidermis. Interestingly, the extruded elastic fibers no longer stain black with Verhoeff-van Gieson stain. There is also increased thickness of individual elastic fibers.1-4
Management
EPS treatment can be challenging, as lesions tend to recur despite aggressive treatment. There are numerous treatment modalities, and sometimes EPS lesions are known to resolve spontaneously. For example, when penicillamine is discontinued, the lesions may improve or resolve.7,8
Non-surgical treatment options include topical or intralesional steroids (ineffective), cellophane tape stripping, topical or oral retinoids and imiquimod. Surgical modalities include excision, dermabrasion, electrosurgery, pulsed dye laser, carbon dioxide laser in continuous wave or fractionated mode and cryotherapy.7-13
Our Patient
A skin biopsy was performed and showed marked irregular acanthosis with overlying parakeratosis (Figure 2 and 3). The follicular infundibulum was distorted and filled with acute inflammatory debris and fragmented eosinophil fibers. The dermis was fibrotic and contained a mixed lymphocytic infiltrate.
Our patient was treated twice with cryotherapy to the plaque on the right posterior neck and once with cantharidin. Despite the peeling and blistering, there was no involution of the lesions. Laser therapy was suggested. The patient chose to try a course of topical therapy with a mid-potency corticosteroid and 6% salicylic acid foam. He stated that the topical treatment provided mild improvement after daily application for 1 month. The patient sought no further treatment.
Conclusion
EPS is a rare disease that can present as an acneiform eruption as presented in this case. It is important to recognize the entity to initiate proper treatment and avoid futile treatments. n
Dr. Agha is with Summit Dermatology and Aesthetic Surgery in Oakbrook Terrace, IL.
Dr. Goldberg is with Dermedica in Northbrook, IL.
Disclosure: The authors report no relevant financial relationships.
References
1. Lutz W. Keratosis follicularis serpiginosa. Dermatologica. 1953;106(3-5):318-319.
2. Mehregan AH. Elastosis perforans serpiginosa: a review of the literature and report of 11 cases. Arch Dermatol. 1968;97(4):381-393.
3. Espinosa PS, Baumann RJ, Vaishnav AG. Elastosis perforans serpiginosa, Down syndrome, and moyamoya disease. Pediatr Neurol. 2008;38(4):287-288.
4. O’Donnell B, Kelly P, Dervan P, Powell FC. Generalised elastosis perforans serpiginosa in Down’s syndrome. Clin Exp Dermatol. 1992;17(1):31-33.
5. Atzori L, Pinna AL, Pau M, Aste N. D-penicillamine elastosis perforans serpiginosa: description of two cases and review of the literature. Dermatol Online J. 2011;17(4):3.
6. Ratnavel RC, Norris PG. Penicillamine-induced elastosis perforans serpiginosa treated successfully with isotretinoin. Dermatology. 1994;189(1):81-83.
7. Outland JD, Brown TS, Callen JP. Tazarotene is an effective therapy for elastosis perforans serpiginosa. Arch Dermatol. 2002;138(2):169-171.
8. Kelly SC, Purcell SM. Imiquimod therapy for elastosis perforans serpiginosa. Arch Dermatol. 2006;142(7):829-830.
9. Tuyp EJ, McLeod WA. Elastosis perforans serpiginosa: treatment with liquid nitrogen. Int J Dermatol. 1990;29(9):655-656.
10. Humphrey S, Hemmati I, Randhawa R, Crawford RI, Hong CH. Elastosis perforans serpignosa: treatment with liquid nitrogen cryotherapy and review of the literature. J Cutan Med Surg. 2010;14(1):38-42.
11. Saxena M, Tope WD. Response of elastosis perforans serpiginosa to pulsed CO2, Er:YAG, and dye lasers. Dermatol Surg. 2003;29(6):677-678.
12. Yang JH, Han SS, Won CH, et al. Treatment of elastosis perforans serpiginosa with the pinhole method using a carbon dioxide laser. Dermatol Surg. 2011;37(4):524-526.
13. Kaufman AJ. Treatment of elastosis perforans serpiginosa with the flashlamp pulsed dye laser. Dermatol Surg. 2000;26(11):1060-1062.
A 15-year-old male presented for evaluation of “bumps on the neck.” He mentioned that the lesions on his neck occasionally “fill with pus,” and are somewhat painful. This eruption was presumed to be of viral origin (herpetic); a culture obtained by his primary care physician was negative. He was treated at separate occasions with topical applications of salicylic acid, tretinoin/clindamycin combination gel as well as oral minocycline and doxycycline courses without significant improvement. His past medical history was significant for facial palsy since birth, without any developmental delays or other neurological disorders.
On physical examination, there were clusters of well-defined erythematous inflammatory papules, coalescing into a plaque (Figure 1). The size of the papules ranged between 5 mm to up to 10 mm, with central small white pustules and mild hemorrhagic crusting, localized to the right posterior neck. His face, chest and anterior neck were clear. A skin biopsy was performed.
What is Your Diagnosis?
See below.
Diagnosis: Elastosis Perforans Serpiginosa
Rania Agha, MD, and Julie S. Goldberg, MD
Originally described by Lutz in 1953, elastosis perforans serpiginosa (EPS) is a rare connective tissue cutaneous disorder of unknown etiology. Its hallmark is transepidermal elimination of abnormal elastic fibers, which manifests clinically as small, grouped hyperkeratotic papules in a serpiginous pattern.1,2
Although it is mostly asymptomatic, EPS can be associated with mild-to-moderate pruritus. Anatomically, it occurs predominantly on the head and neck.1,2
In 25% of cases, an underlying disorder, most commonly a connective tissue disorder, is associated with EPS. EPS is classified as idiopathic, reactive or drug (penicillamine)-induced.1-5
Reactive EPS is associated with Down syndrome (up to 1% of patients), Ehlers-Danlos syndrome, osteogenesis imperfecta, Marfan syndrome, Rothmund-Thomson syndrome and acrogeria. Patients with Wilson’s disease and cystinuria who are treated with penicillamine may develop penicillamine-induced EPS. D-penicillamine disrupts desmosine cross-links within elastin and affects about 1% of patients treated with this drug.5,6
Idiopathic EPS represents disease without associated Down syndrome or connective tissue disease.
Although it may occur in childhood or teenage years as presented in this case, EPS classically presents in the second decade of life (Figure 1). The male to female ratio is about 4.2,5
Clinical Presentation
The lesions appear as flesh colored or erythematous umbilicated papules in an arcuate or serpiginous pattern. The plaques may result in stellate-shape scarring after they clear. Some patients complain of mild pruritus, although most of them are asymptomatic. Patients with Down syndrome have a more severe EPS with a prolonged course, and it rarely can be generalized.1,2,5
The differential diagnosis includes acne, verruca, fungal and bacterial infections, perforating collagenomas, perforating granuloma annulare and any acquired perforating dermatoses.
Diagnosis
Diagnosis of EPS is based on clinical and histologic appearances. Histologically, there is transepidermal elimination of neutrophils and elastic fibers from the dermis through a perforating channel in the epidermis. Interestingly, the extruded elastic fibers no longer stain black with Verhoeff-van Gieson stain. There is also increased thickness of individual elastic fibers.1-4
Management
EPS treatment can be challenging, as lesions tend to recur despite aggressive treatment. There are numerous treatment modalities, and sometimes EPS lesions are known to resolve spontaneously. For example, when penicillamine is discontinued, the lesions may improve or resolve.7,8
Non-surgical treatment options include topical or intralesional steroids (ineffective), cellophane tape stripping, topical or oral retinoids and imiquimod. Surgical modalities include excision, dermabrasion, electrosurgery, pulsed dye laser, carbon dioxide laser in continuous wave or fractionated mode and cryotherapy.7-13
Our Patient
A skin biopsy was performed and showed marked irregular acanthosis with overlying parakeratosis (Figure 2 and 3). The follicular infundibulum was distorted and filled with acute inflammatory debris and fragmented eosinophil fibers. The dermis was fibrotic and contained a mixed lymphocytic infiltrate.
Our patient was treated twice with cryotherapy to the plaque on the right posterior neck and once with cantharidin. Despite the peeling and blistering, there was no involution of the lesions. Laser therapy was suggested. The patient chose to try a course of topical therapy with a mid-potency corticosteroid and 6% salicylic acid foam. He stated that the topical treatment provided mild improvement after daily application for 1 month. The patient sought no further treatment.
Conclusion
EPS is a rare disease that can present as an acneiform eruption as presented in this case. It is important to recognize the entity to initiate proper treatment and avoid futile treatments. n
Dr. Agha is with Summit Dermatology and Aesthetic Surgery in Oakbrook Terrace, IL.
Dr. Goldberg is with Dermedica in Northbrook, IL.
Disclosure: The authors report no relevant financial relationships.
References
1. Lutz W. Keratosis follicularis serpiginosa. Dermatologica. 1953;106(3-5):318-319.
2. Mehregan AH. Elastosis perforans serpiginosa: a review of the literature and report of 11 cases. Arch Dermatol. 1968;97(4):381-393.
3. Espinosa PS, Baumann RJ, Vaishnav AG. Elastosis perforans serpiginosa, Down syndrome, and moyamoya disease. Pediatr Neurol. 2008;38(4):287-288.
4. O’Donnell B, Kelly P, Dervan P, Powell FC. Generalised elastosis perforans serpiginosa in Down’s syndrome. Clin Exp Dermatol. 1992;17(1):31-33.
5. Atzori L, Pinna AL, Pau M, Aste N. D-penicillamine elastosis perforans serpiginosa: description of two cases and review of the literature. Dermatol Online J. 2011;17(4):3.
6. Ratnavel RC, Norris PG. Penicillamine-induced elastosis perforans serpiginosa treated successfully with isotretinoin. Dermatology. 1994;189(1):81-83.
7. Outland JD, Brown TS, Callen JP. Tazarotene is an effective therapy for elastosis perforans serpiginosa. Arch Dermatol. 2002;138(2):169-171.
8. Kelly SC, Purcell SM. Imiquimod therapy for elastosis perforans serpiginosa. Arch Dermatol. 2006;142(7):829-830.
9. Tuyp EJ, McLeod WA. Elastosis perforans serpiginosa: treatment with liquid nitrogen. Int J Dermatol. 1990;29(9):655-656.
10. Humphrey S, Hemmati I, Randhawa R, Crawford RI, Hong CH. Elastosis perforans serpignosa: treatment with liquid nitrogen cryotherapy and review of the literature. J Cutan Med Surg. 2010;14(1):38-42.
11. Saxena M, Tope WD. Response of elastosis perforans serpiginosa to pulsed CO2, Er:YAG, and dye lasers. Dermatol Surg. 2003;29(6):677-678.
12. Yang JH, Han SS, Won CH, et al. Treatment of elastosis perforans serpiginosa with the pinhole method using a carbon dioxide laser. Dermatol Surg. 2011;37(4):524-526.
13. Kaufman AJ. Treatment of elastosis perforans serpiginosa with the flashlamp pulsed dye laser. Dermatol Surg. 2000;26(11):1060-1062.
A 15-year-old male presented for evaluation of “bumps on the neck.” He mentioned that the lesions on his neck occasionally “fill with pus,” and are somewhat painful. This eruption was presumed to be of viral origin (herpetic); a culture obtained by his primary care physician was negative. He was treated at separate occasions with topical applications of salicylic acid, tretinoin/clindamycin combination gel as well as oral minocycline and doxycycline courses without significant improvement. His past medical history was significant for facial palsy since birth, without any developmental delays or other neurological disorders.
On physical examination, there were clusters of well-defined erythematous inflammatory papules, coalescing into a plaque (Figure 1). The size of the papules ranged between 5 mm to up to 10 mm, with central small white pustules and mild hemorrhagic crusting, localized to the right posterior neck. His face, chest and anterior neck were clear. A skin biopsy was performed.
What is Your Diagnosis?
See below.
Diagnosis: Elastosis Perforans Serpiginosa
Rania Agha, MD, and Julie S. Goldberg, MD
Originally described by Lutz in 1953, elastosis perforans serpiginosa (EPS) is a rare connective tissue cutaneous disorder of unknown etiology. Its hallmark is transepidermal elimination of abnormal elastic fibers, which manifests clinically as small, grouped hyperkeratotic papules in a serpiginous pattern.1,2
Although it is mostly asymptomatic, EPS can be associated with mild-to-moderate pruritus. Anatomically, it occurs predominantly on the head and neck.1,2
In 25% of cases, an underlying disorder, most commonly a connective tissue disorder, is associated with EPS. EPS is classified as idiopathic, reactive or drug (penicillamine)-induced.1-5
Reactive EPS is associated with Down syndrome (up to 1% of patients), Ehlers-Danlos syndrome, osteogenesis imperfecta, Marfan syndrome, Rothmund-Thomson syndrome and acrogeria. Patients with Wilson’s disease and cystinuria who are treated with penicillamine may develop penicillamine-induced EPS. D-penicillamine disrupts desmosine cross-links within elastin and affects about 1% of patients treated with this drug.5,6
Idiopathic EPS represents disease without associated Down syndrome or connective tissue disease.
Although it may occur in childhood or teenage years as presented in this case, EPS classically presents in the second decade of life (Figure 1). The male to female ratio is about 4.2,5
Clinical Presentation
The lesions appear as flesh colored or erythematous umbilicated papules in an arcuate or serpiginous pattern. The plaques may result in stellate-shape scarring after they clear. Some patients complain of mild pruritus, although most of them are asymptomatic. Patients with Down syndrome have a more severe EPS with a prolonged course, and it rarely can be generalized.1,2,5
The differential diagnosis includes acne, verruca, fungal and bacterial infections, perforating collagenomas, perforating granuloma annulare and any acquired perforating dermatoses.
Diagnosis
Diagnosis of EPS is based on clinical and histologic appearances. Histologically, there is transepidermal elimination of neutrophils and elastic fibers from the dermis through a perforating channel in the epidermis. Interestingly, the extruded elastic fibers no longer stain black with Verhoeff-van Gieson stain. There is also increased thickness of individual elastic fibers.1-4
Management
EPS treatment can be challenging, as lesions tend to recur despite aggressive treatment. There are numerous treatment modalities, and sometimes EPS lesions are known to resolve spontaneously. For example, when penicillamine is discontinued, the lesions may improve or resolve.7,8
Non-surgical treatment options include topical or intralesional steroids (ineffective), cellophane tape stripping, topical or oral retinoids and imiquimod. Surgical modalities include excision, dermabrasion, electrosurgery, pulsed dye laser, carbon dioxide laser in continuous wave or fractionated mode and cryotherapy.7-13
Our Patient
A skin biopsy was performed and showed marked irregular acanthosis with overlying parakeratosis (Figure 2 and 3). The follicular infundibulum was distorted and filled with acute inflammatory debris and fragmented eosinophil fibers. The dermis was fibrotic and contained a mixed lymphocytic infiltrate.
Our patient was treated twice with cryotherapy to the plaque on the right posterior neck and once with cantharidin. Despite the peeling and blistering, there was no involution of the lesions. Laser therapy was suggested. The patient chose to try a course of topical therapy with a mid-potency corticosteroid and 6% salicylic acid foam. He stated that the topical treatment provided mild improvement after daily application for 1 month. The patient sought no further treatment.
Conclusion
EPS is a rare disease that can present as an acneiform eruption as presented in this case. It is important to recognize the entity to initiate proper treatment and avoid futile treatments. n
Dr. Agha is with Summit Dermatology and Aesthetic Surgery in Oakbrook Terrace, IL.
Dr. Goldberg is with Dermedica in Northbrook, IL.
Disclosure: The authors report no relevant financial relationships.
References
1. Lutz W. Keratosis follicularis serpiginosa. Dermatologica. 1953;106(3-5):318-319.
2. Mehregan AH. Elastosis perforans serpiginosa: a review of the literature and report of 11 cases. Arch Dermatol. 1968;97(4):381-393.
3. Espinosa PS, Baumann RJ, Vaishnav AG. Elastosis perforans serpiginosa, Down syndrome, and moyamoya disease. Pediatr Neurol. 2008;38(4):287-288.
4. O’Donnell B, Kelly P, Dervan P, Powell FC. Generalised elastosis perforans serpiginosa in Down’s syndrome. Clin Exp Dermatol. 1992;17(1):31-33.
5. Atzori L, Pinna AL, Pau M, Aste N. D-penicillamine elastosis perforans serpiginosa: description of two cases and review of the literature. Dermatol Online J. 2011;17(4):3.
6. Ratnavel RC, Norris PG. Penicillamine-induced elastosis perforans serpiginosa treated successfully with isotretinoin. Dermatology. 1994;189(1):81-83.
7. Outland JD, Brown TS, Callen JP. Tazarotene is an effective therapy for elastosis perforans serpiginosa. Arch Dermatol. 2002;138(2):169-171.
8. Kelly SC, Purcell SM. Imiquimod therapy for elastosis perforans serpiginosa. Arch Dermatol. 2006;142(7):829-830.
9. Tuyp EJ, McLeod WA. Elastosis perforans serpiginosa: treatment with liquid nitrogen. Int J Dermatol. 1990;29(9):655-656.
10. Humphrey S, Hemmati I, Randhawa R, Crawford RI, Hong CH. Elastosis perforans serpignosa: treatment with liquid nitrogen cryotherapy and review of the literature. J Cutan Med Surg. 2010;14(1):38-42.
11. Saxena M, Tope WD. Response of elastosis perforans serpiginosa to pulsed CO2, Er:YAG, and dye lasers. Dermatol Surg. 2003;29(6):677-678.
12. Yang JH, Han SS, Won CH, et al. Treatment of elastosis perforans serpiginosa with the pinhole method using a carbon dioxide laser. Dermatol Surg. 2011;37(4):524-526.
13. Kaufman AJ. Treatment of elastosis perforans serpiginosa with the flashlamp pulsed dye laser. Dermatol Surg. 2000;26(11):1060-1062.
