Case report

Pseudoainhum in a patient with tuberous sclerosis complex:

a case report and review of the literature

Enver Turan1, MD, Yavuz Yesilova1, MD, Tugba Kokgil2, MD, and Ulas Guvenc3, MD

1Department of Dermatology, Faculty of

Medicine, University of Harran,

Sanliurfa, Turkey, 2Department of

Dermatology, Ministry of Health,

Batman Regional Government Hospital,

Batman, Turkey, and 3Department of

Dermatology, Sanliurfa Education and

Research Hospital, Sanliurfa, Turkey

Correspondence

Enver Turan, MD

Department of Dermatology

Faculty of Medicine

University of Harran

63200-Sanliurfa

Turkey

E-mail: enverturan@gmail.com

Conflicts of interest: None.

Pseudoainhum is a rare condition of unknown etiologycharacterized by the appearance of a constricting bandaround a digit. This may lead to irreversible damage andspontaneous amputation. This rare condition occurs as asecondary event resulting from certain hereditary andnon-hereditary diseases. Associated diseases include kera-tinization disorders, metabolic and neurologic diseases,connective tissue diseases, bullous disease, and congenitalanomalies.

Case report

A 17-year-old female presented at our clinic with local-ized papulonodular lesions on the area around the nose,cheeks, and chin. The patient, who had a history of occa-sional seizures, reported having taken carbamazepine(1200 g/day) and levetiracetam (1000 mg/day) for epi-lepsy and risperidone (3 mg/day) for a behavioral disorderover the previous six months. Upon dermatologic exami-nation, a number of sebaceous adenomas presenting asbilateral localized facial angiofibromas were noted, alongwith fibrous plaque measuring approximately 4 · 5 cm 357

Figure 1 Numerous facial angiofibromas (adenomasebaceum) are distributed on the nose, chin, and cheeks.Plaque is seen on the right frontotemporoparietal area of theforehead

ª 2013 The International Society of Dermatology International Journal of Dermatology 2014, 53, 357–361

on the forehead (Fig. 1). Periungual angiofibromas orKoenen’s tumors were also noted on two fingers, and twohypopigmented lesions were seen on the midline of theback. Gingival hyperemia and hypertrophy were found inthe oral mucosa. Further, pseudoainhum was noted on thefifth digit of the left foot, as well as papillomatosis on thearea distal to the band (Fig. 2).

The results of a neurologic examination were normal.An intelligence test administered during psychiatric evalu-ation indicated slight intellectual impairment (IQ = 65).Ophthalmologic examination found no deficits in sight.Magnetic resonance imaging analysis indicated calcificcortical, ventricular, and supraventricular tubers andwhite matter abnormalities. Extraparenchymal arachnoidcysts were localized next to the right anterior frontal lobeand anterior to the left temporal lobe (Fig. 3). Computer-ized tomography (CT) of the abdomen indicated slightly

Figure 2 Pseudoainhum with constricting bands is apparenton the fifth toe of the left foot

(a) (b)

(c) (d)

Figure 3 T2-weighted magnetic resonance imaging analysis indicated: (a) subependymally localized calcific tubers on bothlateral ventriculars; (b) a number of calcific tubers localized on the cortical, subcortical and white matter area at theperiventricular and supraventricular level; (c) a 16 · 38-mm arachnoid cyst localized extraparenchymally next to the anteriorright frontal lobe, and (d) a 21 · 33-mm cyst anterior to the left temporal lobe

International Journal of Dermatology 2014, 53, 357–361 ª 2013 The International Society of Dermatology

Case report Pseudoainhum in a patient with tuberous sclerosis complex Turan et al.358

increased kidney size with many parapelvic and corticalcysts. A thorax CT examination indicated no abnormalfindings. Electroencephalography was normal.

The histopathologic examination of a skin biopsy fromthe papillary lesions around the nose indicated sebaceousadenoma. Chromosomal karyotype analysis from aperipheral blood sample was normal and indicated nonumerical or structural chromosomal abnormality. Nopathologic findings on the echocardiogram were deter-mined.

X-ray imaging of the left foot indicated destruction,and valgus deformity was determined on the distal pha-lanx of the fifth toe (Fig. 4). Given these findings, thepatient was diagnosed with tuberous sclerosis complex(TSC) accompanied by pseudoainhum.

Discussion

Ainhum and pseudoainhum are characterized by annularconstructive bands on the fingers. Ainhum (dactylolysisspontanea) was first identified by da Silva Lima in 1867.1

Its name is derived from the words for ‘‘fissure’’ in EastAfrican and South American languages.2 The relationshipbetween walking barefoot and ainhum is not fullyknown. As in the present case, pseudoainhum typicallyaffects the fifth digit of the foot and is more prevalent inAfricans and South Americans.1,3 However, it can beobserved in Caucasian individuals, as in the currentpatient and in other cases in the literature.4–6 Although itusually affects the fifth digit of the foot, all the toes maybe affected.3

Wells and Robinson classified constrictive narrowingbands on the extremities into four general classes:7 (i) ain-hum; (ii) congenital bands; (iii) ainhum-like narrowingbands associated with other diseases; and (iv) bandssecondary to trauma. In order to identify all othernarrowings after ainhum, Neuman8 used the term‘‘pseudoainhum’’.9–11

In the natural course of pseudoainhum, a constrictiveband initially encircles the digit and blocks blood flow bygrowing towards the subcutaneous fatty tissue, muscle,and tendons over time. This results in autoamputationwithout bleeding of the distal portion of the digit causedby bone resorption.12 The condition frequently progresseswithout pain as a result of its slow progress. Trauma,infection, vascular insufficiency, hyperkeratosis, and sen-sation failure cause extensive fibroblast activity and resultin the formation of the fibrous band. After the constric-tive band develops, blood flow and toe innervation is dis-rupted. The final progression of this condition results inautoamputation,13 but in the present patient the toeremained intact.

Although pseudoainhum is frequently observed in a sin-gle digit, it has been reported in the literature in all digitsof the hand in a patient with Reynolds syndrome andbreast cancer.14 Additionally, pseudoainhum is reportedlyassociated with a large number of diseases (Table 1).Conditions associated with pseudoainhum can be classi-fied as keratinization abnormalities,4–6,15–36 metabolicand neurologic disorders,9–11,14,37,38 connective tissue dis-eases,39–42 bullous dermatosis,43–45 infections,34,46,47 andcongenital abnormalities.48,49

This case report represents the first identification of anassociation of pseudoainhum with TSC, a neurocutaneoussyndrome. It is thought that hamartomas in TSC developfrom abnormal cell migration and organization.50 Devel-opment of pseudoainhum may result from this disruptedmigration and organization just as in other organsaffected by TSC. By contrast, Koenen’s tumor or ungualfibroma may occur adjacent to or below the nail plate.Larger lesions are distinctive and tend to destroy part ofthe nail. The nail plate on the fifth toe in the presentpatient could not be detected, and its surface was com-pletely covered by hyperkeratotic skin. We suggest thatthis case represents an example of pseudoainhum occur-ring secondary to repetitive trauma caused by Koenen’stumor.

The excision of the constrictive band via z-plasty is rec-ommended in the literature for the treatment of pseudoain-hum.51 However, results concerning the administration ofsystemic steroids, aromatic retinoids, tranilast, and antifib-rotic agents conflict.2,29,42 This report describes a case ofpseudoainhum presenting with properties characteristic ofTSC. This association, which has not been previously

Figure 4 X-ray (roentgenogram) of the left foot demon-strated osteolytic destruction of the distal phalanx of thefifth digit

ª 2013 The International Society of Dermatology International Journal of Dermatology 2014, 53, 357–361

Turan et al. Pseudoainhum in a patient with tuberous sclerosis complex Case report 359

reported in the literature, may provide clues to the etiologyof pseudoainhum.

References

1 da Silva Lima JF. Ainhum. Gaz Med Bahia 1867; 1:146–151.

2 Greene JT, Fincher RM. Case report: ainhum(spontaneous dactylolysis) in a 65-year-old Americanblack man. Am J Med Sci 1992; 303: 118–120.

3 Bertoli CL, Stassi J, Rifkin MD. Ainhum – an unusualpresentation involving the second toe in a white male.Skeletal Radiol 1984; 11: 133–135.

4 Ishida-Yamamoto A, McGrath JA, Lam H, et al. Themolecular pathology of progressive symmetricerythrokeratoderma: a frameshift mutation in the loricringene and perturbations in the cornified cell envelope. Am

J Hum Genet 1997; 61: 581–589.5 Vahlquist A, Ponten F, Pettersson A. Keratosis linearis

with ichthyosis congenita and sclerosing keratoderma(KLICK syndrome): a rare, autosomal recessive disorderof keratohyaline formation? Acta Derm Venereol 1997;77: 225–227.

6 Lestringant GG, Hadi SM, Qayed KI, Blayney BJ. Mal deMeleda: recessive transgressive palmoplantar keratodermawith three unusual facultative features. Dermatology

1992; 184: 78–82.7 Wells T, Robinson R. Annular constrictions of the digits:

presentation of an interesting example. Arch Derm

Syphilol 1952; 66: 569–572.8 Neumann A. Pseudoainhum: report of congenital case

involving several fingers and the left wrist. Arch

Dermatol Syphil 1953; 68: 421e7.9 Koberich M. [Ainhum and a pseudoainhum syndrome.

Overview with two case reports.]. Z Hautkr 1980; 55:349–354.

10 Diestelmeier MR, Rodman OG. Pseudoainhum associatedwith plica neuropathica. Cutis 1981; 28: 629–630.

11 Christopher AP, Grattan CE, Cowan MA. Pseudoainhumand erythropoietic protoporphyria. Br J Dermatol 1988;118: 113–116.

12 Cole GJ. Ainhum: an account of fifty-four patients withspecial reference to etiology and treatment. J Bone Joint

Surg Br 1965; 47: 43–51.13 Rausher H, Birrer RB, Aronstein M, et al. Ainhum;

dactylolysis spontanea. N Y State J Med 1981; 81: 1779–1781.

14 Wollina U, Graefe T, Oelzner P, et al. Pseudoainhum ofall fingers associated with Reynolds’ syndrome and breastcancer: report of a case and review of the literature. J

Am Acad Dermatol 2001; 44(Suppl.): 381–384.15 Ahn SJ, Oh SH, Chang SE, et al. A case of infantile

psoriasis with pseudoainhum successfully treated withtopical pimecrolimus and low-dose narrowband UVBphototherapy. J Eur Acad Dermatol Venereol 2006; 20:1332–1334.

16 McLaurin CI. Psoriasis presenting with pseudoainhum. J

Am Acad Dermatol 1982; 7: 130–132.17 Almond SL, Curley RK, Feldberg L. Pseudoainhum in

chronic psoriasis. Br J Dermatol 2003; 149: 1064–1066.18 Capdevila JM, Pedragosa R. [Pityriasis rubra pilaris with

pseudoainhum.]. Actas Dermosifiliogr 1974; 64: 245–248.19 Ramesh V, Misra RS, Mahaur BS. Pseudoainhum in

porokeratosis of Mibelli. Cutis 1992; 49: 129–130.20 Wei B, Liu M, Qu L, et al. Congenital linear

porokeratosis with pseudoainhum. Eur J Dermatol 2010;20: 817–818.

Table 1 Pseudoainhum-associated diseases reported during1970–2011

Disorders of abnormal keratinization

Psoriasis15–17

Pityriasis rubra pilaris18

Porokeratosis of Mibelli19

Congenital linear porokeratosis20

Focal acral hyperkeratosis and angiodysplasia21

Lamellar ichthyosis22–24

Keratosis palmoplantaris with polydactyly and eosinophilia25

Keratoma hereditarium dissipatum palmare et plantare

(Buschke–Fischer–Brauer)26

Keratoderma hereditarium mutilans (Vohwinkel)27–32

Progressive symmetric erythrokeratoderma (PSEK)4

Keratosis linearis with ichthyosis congenita and sclerosing

keratoderma (KLICK)5

Keratosis palmoplantaris transgradiens of Siemens (mal de

Meleda)6,33

Clouston’s syndrome34

Ectodermal dysplasia syndrome (with cataracts, alopecia,

sclerodactyly)35

Papillon–Lefevre syndrome36

Loricrin keratoderma32

Metabolic and neurologic diseases

Isolated polyneuropathy37

Gout disease38

Alcohol-toxic polyneuropathy9

Erythropoietic protoporphyria11

Plica neuropathica, hair matting, schizophrenia10

Reynolds syndrome and breast cancer14

Connective tissue diseases

Rheumatoid arthritis39

Discoid lupus erythematosus40

Localized scleroderma41,42

Bullous disease

Hereditary bullous acrokeratotic poikiloderma of Weary–Kindler43,44

Epidermolysis bullosa45

Infectious disease

Leprosy, treponematoses, ankylostomiasis, yaws, syphilis34,46,47

Neurocutaneous syndromes

Tuberous sclerosis complex (current patient)

Congenital anomalies

Fetal thalidomide syndrome48

Amniotic band syndrome (Simonart syndrome)49

International Journal of Dermatology 2014, 53, 357–361 ª 2013 The International Society of Dermatology

Case report Pseudoainhum in a patient with tuberous sclerosis complex Turan et al.360

21 Graham RM, James MP. Pseudoainhum, angiodysplasiaand focal acral hyperkeratosis. J R Soc Med 1985;78(Suppl.): 13–15.

22 Al Aboud K, Al Hawsawi K, Ramesh V. Bilateralpseudoainhum in lamellar ichthyosis. Pediatr Dermatol

2004; 21: 181–182.23 Pinna A, Ena P, Carta F. Eye changes in a patient with

lamellar ichthyosis and toe pseudoainhum. Eye (Lond)

2004; 18: 445–446.24 Dornier C, Cuny JF, Di Cesare MP, et al. [Pseudoainhum

in lamellar ichthyosis.]. Ann Dermatol Venereol 2001;128: 1037–1039.

25 Sehgal VN, Dube B. Polydactyly with ainhum in all theextra digits, hyperkeratosis palmaris et plantaris, andidiopathic eosinophilia. A new association.Dermatologica 1969; 138: 39–44.

26 Ortega Resinas M, Sanchez Conejo-Mir J, CamachoMartinez F. [Ainhum and keratodermia of the Brauer–Buschke–Fischer type.]. Actas Dermosifiliogr 1982; 73:105–110.

27 Korge BP, Ishida-Yamamoto A, Punter C, et al. Loricrinmutation in Vohwinkel’s keratoderma is unique to thevariant with ichthyosis. J Invest Dermatol 1997; 109:604–610.

28 Takahashi H, Ishida-Yamamoto A, Kishi A, et al.

Loricrin gene mutation in a Japanese patient ofVohwinkel’s syndrome. J Dermatol Sci 1999; 19: 44–47.

29 Camisa C, Rossana C. Variant of keratodermahereditaria mutilans (Vohwinkel’s syndrome).Treatmentwith orally administered isotretinoin. Arch Dermatol

1984; 120: 1323–1328.30 Bell M, Hoede N, Schopf RE. Pseudo-Ainhum bei

Morbus Vohwinkel. Hautarzt 1993; 44: 738–741.31 Peris K, Salvati EF, Torlone G, Chimenti S. Keratoderma

hereditarium mutilans (Vohwinkel’s syndrome) associatedwith congenital deaf-mutism. Br J Dermatol 1995; 132:617–620.

32 Matsumoto K, Muto M, Seki S, et al. Loricrinkeratoderma: a cause of congenital ichthyosiformerythroderma and collodion baby. Br J Dermatol 2001;145: 657–660.

33 Bergman R, Bitterman-Deutsch O, Fartasch M, et al. Malde Meleda keratoderma with pseudoainhum. Br J

Dermatol 1993; 128: 207–212.34 Somasundaram V, Wahab AJ, Shobana S, et al.

Pseudoainhum in Clouston’s disease. Int J Dermatol

1990; 29: 225–226.35 Wallis C, Ip FS, Beighton P. Cataracts, alopecia, and

sclerodactyly: a previously apparently undescribedectodermal dysplasia syndrome on the island ofRodrigues. Am J Med Genet 1989; 32: 500–503.

36 Mashhood AA, Humayun A, Saleem M, Arshi I.Papillon–Lefevre syndrome associated withpseudoainhum. J Am Acad Dermatol 2004; 51(Suppl.):134–136.

37 Akallal N, Belgnaoui FZ, Benameur H, et al.

[Pseudoainhum and peripheral neuropathy.]. Ann

Dermatol Venereol 2006; 133: 791–794.38 Mrabet D, Monastiri I, Elleuch M, et al. Pseudoainhum

in gout: a case report. Joint Bone Spine 2010; 77: 368–369.

39 Arsov D KJ-M, Kahn M-F. Une maladie peu connue:l’Ainhum son association á une polyarthrite rhumatoide.A propos de 2 cas. Rhumatologie 1970; 22: 1–6.

40 Sharma RC, Sharma AK, Sharma NL. Pseudoainhum indiscoid lupus erythematosus. J Dermatol 1998; 25: 275–276.

41 Park BS, Hyun Cho K, Youn JI, Chung JH.Pseudoainhum associated with linear scleroderma. Arch

Dermatol 1996; 132: 1520–1521.42 Tajima S, Suzuki Y, Inazumi T. A case of atypical

localized scleroderma presenting with pseudoainhum:treatment with tranilast, an anti-fibrotic agent. Acta

Derm Venereol 1996; 76: 162–164.43 Krunic AL, Medenica L, Novak A, et al. Hereditary

bullous acrokeratotic poikiloderma of Weary–Kindlerassociated with pseudoainhum and sclerotic bands. Int J

Dermatol 1997; 36: 529–533.44 Arita K, Wessagowit V, Inamadar AC, et al. Unusual

molecular findings in Kindler syndrome. Br J Dermatol

2007; 157: 1252–1256.45 Kim YS, Hong HJ, Roh TS. Surgical correction of

pseudoainhum in chronic epidermolysis bullosa: a casereport. J Plast Reconstr Aesthet Surg 2009; 62: 191–193.

46 Raque CJ, Stein KM, Lane JM, Reese EC Jr.Pseudoainhum constricting bands of the extremities. Arch

Dermatol 1972; 105: 434–438.47 Gibbs RC, Frank SB. Keratoma hereditaria mutilans

(Vohwinkel). Differentiating features of conditions withconstriction of digits. Arch Dermatol 1966; 94: 619–625.

48 Rubegni P, Poggiali S, Bilenchi R, et al. Venous ulcers ofthe lower limbs due to congenital thalidomide-relatedvalve defect. Angiology 2007; 58: 491–493.

49 Stinco G, Quinkenstein E, De Francesco V, et al.

[Complications of pseudoainhum.]. Hautarzt 2003; 54:163–166.

50 Castillo M, Whaley RA, Point SW, Black JA. Gyriformenhancement in tuberous sclerosis simulating infarction.Radiology 1992; 185: 613–614.

51 Pisoh T, Bhatia A, Oberlin C. Surgical correction ofpseudoainhum in Vohwinkel syndrome. J Hand Surg (Br)

1995; 20: 338–341.

ª 2013 The International Society of Dermatology International Journal of Dermatology 2014, 53, 357–361

Turan et al. Pseudoainhum in a patient with tuberous sclerosis complex Case report 361