Pseudoainhum and erythropoietic protoporphyria

Abstract

We report the development of pseudoainhum in a patient with erythropoietic protoporphyria, the first report, to our knowledge, of these two unusual conditions occurring together. An excellent cosmetic and functional result was achieved with a Z plasty.

Pseudoainhum in a patient with tuberous sclerosis complex: a case report and review of the literature

“…Wells and Robinson classified constrictive narrowing bands on the extremities into four general classes: 7 (i) ainhum; (ii) congenital bands; (iii) ainhum‐like narrowing bands associated with other diseases; and (iv) bands secondary to trauma. In order to identify all other narrowings after ainhum, Neuman 8 used the term “pseudoainhum” 9–11 …”

“…In order to identify all other narrowings after ainhum, Neuman 8 used the term ''pseudoainhum''. [9][10][11] In the natural course of pseudoainhum, a constrictive band initially encircles the digit and blocks blood flow by growing towards the subcutaneous fatty tissue, muscle, and tendons over time. This results in autoamputation without bleeding of the distal portion of the digit caused by bone resorption.…”

“…2,29,42 This report describes a case of pseudoainhum presenting with properties characteristic of TSC. This association, which has not been previously Disorders of abnormal keratinization Psoriasis [15][16][17] Pityriasis rubra pilaris 18 Porokeratosis of Mibelli 19 Congenital linear porokeratosis 20 Focal acral hyperkeratosis and angiodysplasia 21 Lamellar ichthyosis [22][23][24] Keratosis palmoplantaris with polydactyly and eosinophilia 25 Keratoma hereditarium dissipatum palmare et plantare (Buschke-Fischer-Brauer) 26 Keratoderma hereditarium mutilans (Vohwinkel) [27][28][29][30][31][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 syndrome 34 Ectodermal dysplasia syndrome (with cataracts, alopecia, sclerodactyly) 35 Papillon-Lefevre syndrome 36 Loricrin keratoderma 32 Metabolic and neurologic diseases Isolated polyneuropathy 37 Gout disease 38 Alcohol-toxic polyneuropathy 9 Erythropoietic protoporphyria 11 Plica neuropathica, hair matting, schizophrenia 10 Reynolds syndrome and breast cancer 14 Connective tissue diseases Rheumatoid arthritis 39 Discoid lupus erythematosus 40 Localized scleroderma 41,42 Bullous disease Hereditary bullous acrokeratotic poikiloderma of Wea...…”

“…Additionally, pseudoainhum is reportedly associated with a large number of diseases (Table 1). Conditions associated with pseudoainhum can be classified as keratinization abnormalities, 4–6,15–36 metabolic and neurologic disorders, 9–11,14,37,38 connective tissue diseases, 39–42 bullous dermatosis, 43–45 infections, 34,46,47 and congenital abnormalities 48,49 …”