Are You Confident of the Diagnosis?
Palmoplantar keratodermas (hereby referred to as PPKs) represent a large, varied group of syndromes that are vastly different with respect to symptoms and clinical presentation. Please refer to
Primary Feature: SkinPrimary Feature: Other
|Disorder||Synonyms||PPK Column*||ICD-9||Selected Epidemiologic Features||Genetic Cause||Syndromic Associations||Distinguishing features||Age of onset (for disorder manifistation)||Erythema||Transgrediens||Other Epidermal Features**||Systemic Features***||Relevant Pathology||Differenctial Diagnosis||Systemic Options||Additional Specialists Needed|
|Acrokeratoelastoidosis||Collagenous plaques of hands and feet, PPK type III, Focal Acralhyperkeratosis, Keratoelastoidosis marginalis, Acrokeratoelastoidosis of Costa||757.4||Prevelent in African female population <20||2p25-p12||Nodular and yellow with hyperkeratotic surfaces on the marginal borders of hands and/or feet||Adolescence||No||No||No||No||Cup shaped epidermal dell overlying a dermis with elastorrhexis, collegen degeneration, dilation of papillary blood vessels, hypopigmentation of basal layer||Other PPKs, Xanthomata, Focal Acral Hyperkeratosis, Solar Elastosis||skin biopsy||none|
|Bart-Pumphrey syndrome||Knuckle pads, leukonychia, and sensorineural deafness||757.4||Most prevalent in Northern European Ancestry||Cx26 (GJB2)||Hearing impairment||Stippled or pitted hyperkeratosis of the knuckle pads, Leukonychia||Early Childhood||No||No||M||E||Massive orthokeratotic hyperkeratosis without parakeratosis, hypergranulosis, acanthosis and papillomatosis epidermal gap junctions appear normal on electron microscopy||Vohwinkel Syndrome||Audiologist|
|Cantu syndrome||Hyperkeratosis-hyperpigmentation syndrome, Hypertrichotic Osteochondrodysplasia||757.4||unknown||Macrosomia at birth, osteochondroplasia, cardiomegaly, gingival hyperplasia||Distinct PPK characteristics were not available for Cantu Syndrome other than deep creases on the soles of feet.||Early Childhood||No||No||No||D, O, H||hypertrichosis universalis, x-linked congenital generalized hypertrichosis||Draw Liver panel for elevated Alkaline Phosphate levels, x-rays of limbs, EKG||Dentist, Orthopedist, Cardiologist|
|Cardiofaciocutaneous syndrome||CFC Syndrome||757.4||KRAS, FRAF, MEK1, MEK2||Heart defect, sparse hair, distinctive facial features||Hyperkeratotic skin lesion, ichthyosis-like condition||Birth||No||Yes||H, I||H, N, V||Noonan Syndrome, Costello Syndrome||EKG||Cardiologist, Neurologist, Opthalmologist|
|Carvajal syndrome||757.4||Increased in Ecuadorian population||Desmoplakin||Heart Disease (dilated cardiomiopathy-left ventricular), Woolly hair||Striate PPK over pressure areas of palms and soles||Birth||No||No||H, F||H||Naxos Disease||EKG||Cardiologist|
|CEDNIK syndrome||Cerebral dygenesis, neuropathy, ichthyosis and keratoderma||757.4||SNAP29||Microcephaly and facial dysmorphism, Roving eye movement, poor head and trunk control||Ichtyosis, generalized scaling, PPK reported but not described||Early Childhood||No||No||I||N, V||Clear vesicles in the spinous, granular, and stratum corneum layers, with retained glucosylceramides, suggesting abnormal lamellargranule maturation||ARC syndrome, MEDNIK Syndrome, Sjogren-Larsson Syndrome, Chanarin-Dorman disease, trichothiodystrophy, Gaucher disease||Electron microscopy analysis, brain MRI||Neurologist, Opthalmologist|
|Clouston Syndrome||Hidrotic ectodermal dysplasia, HED||757.4||Most common in French-Canadian Population||Cx26 (13q11), Cx30||Nail dystrophy, sparse hair/alopecia||PPK with transgradiens||Birth||No||Yes||H, N||No||Cytoplasmic accumulation when quickly expressed in cultured keratinocytes--complete loss of gap junction function||Pachyonychia Congenita||none|
|Congenital ichthyosiform erythoderma||CIE, IECN1, NCIE, Ichthyosiform erythroderma Brocq congenital non-bullous form, Non bullous congenital ichthyosiform erythroderma 1||757.1||TGM1, Ichthyin (5q33.3),ALOXE3,ALOXE12B,ABHD5||Thick collodion membrane with erythroderma at birth. Lifelong erythroderma, scaling||Variable palmoplantar involvement||Birth||Yes||No||I||No||moderate hyperkeratosis, normal/slightly thickened granular cell layer, mild acanthosis, and varibale parakeratosis||Lamellar Ichthyosis, Sjogren-Larsson Syndrome||skin biopsy||none|
|Dyskeratosis congenita||DKC, Dyskeratosis congenita, Scoggins type||757.4||Most common in men||TINF2,TERT||Leukoplakia, nail dystrophy, susceptible to malignancy, continuous lacrimation||Reticulated hyperpigmentation||Early Childhood||Yes||No||M, N||C, G, V||Atrophy of the epidermis with pigment laden macrophages present in the upper dermis||Fanconi's Anemia, Naegeli-Franceshetti -Jadassohn Syndrome, GVHD||skin biopsy||Hematologist/Oncologist, Gastroenterologist, Ophthalmologist|
|Ectodermal dysplasia with skin fragility||McGrath Syndrome||757.3||PKP1||Diffuse blistering, dystrophic nails, sparse hair||Trauma-induced skin fragility and tearing, painful craking , hyperkeratosis of soles and palms,||Birth||Yes||No||H, N, B, S||No||Thickening of the epidermis and extensive widening of keratinocyte intercellular spaces, extending from the first suprabasal layer upwards. Loss of keratinocyte-keratinocyte adhesion and desmosomes in the lower suprabasallayers were small and reduced in numbers||none|
|Epidermolysis bullosa simplex||Dowling-Meara with mottled pigmentation, Weber-Cockayne, Non-Herlitz junctional, Koebner type, EBS||757.4||K5, K14||Oral blisters, recurrent blistering following minor physical trauma||Palmoplantar Bullous vesicles, patchy hyperkeratosis||Birth-Early Childhood||No||No||M, B||No||Disintegration of the basal and suprabasilar cells, intralepidermal blistering with evidence of cytolysis of the basal keratinocytes.||Pemphigus Neonatorum||Podiatrist|
|Epidermolytic PPK (EPPK)||Vorner type, Keratoderma, Hyperkeratosis, Localized Epidermolytic Keratosis, Keratosis of Griether, Palmaris et plantaris familiaris tylosis||757.4||K9, K1||Chilhood blistering may occur||Lateral thick, yellow hyperkeratosis, border is erythematous||Early Childhood||Yes||No||B||No||Epidermolytic hyperkeratosis, thickened stratum corneum, keratinocytes of the granular layer and upper spinous layers had a vacuolated appearance with abnormally shaped keratohyalin granules.||Maleda type, NEPPK, other PPKs||skin biopsy||none|
|Familial pityriasis rubra pilaris||pityriasis rubra pilaris, PRP||696.4||unknown (K1)||Orange/red waxy PPKs, follicular papules on erythematous base||Early Childhood||Yes||No||No||No||Papillomatosis and widened intercellular spaces betweek keratinocytes, thickened stratum corneum with focal areas of parakeratosis and thickened granual layer. Mild lymphocytic inflammatory infiltrate surrounded vessels in the papillary dermis.||Ichthiosiform dermatoses||none|
|Focal Acral Hyperkeratosis||FAH||2p25-p12||Nail dystrophy||yellowish-flesh colored, polygonal,hyperkeratotic palmoplantar papules and plaques symmetrically clustered||Adolescence||No||No||N||No||orthohyperkeratotosis, moderate acanthosis and hypergranulation. No evidence of elastorrhexis.||AKE, Verruca plana, PPPK||skin biopsy|
|Focal palmoplantar and gingival keratosis||Keratosis, focal palmoplantar and gingival||757.4||unknown||Thickened fingernails, follicular keratosis, papillated leukokeratosis in the regions of the attached gingiva||Hyperkeratosis on weight-bearing areas, trauma related hyperkeratosis of the palms,||Adolescence||No||No||M, N, F||D||Paranuclear bodies have been identified in Keratinocytes of the spinous and granular cell layers which have been characterized as condensations of tonofilaments||none||Dentist|
|Haim-Munk syndrome||PPK with periodontitis, arachnodactyly, acro-osteolysis, Cochin Jewish Disorder, HMS, Keratosis palmoplantaris with periodontopathia and onychogryposis||757.4||Jewish populations||Cathepsin C||Pes planus, onychogryphosis, peridontitis, arachnodactyly||Scaly, circumscribed, erythematous patches on the elbows, knees, forearms, shins, and dorsum of the hands||Early Childhood||Yes||Yes||M||D, O||Hyperkeratosis scattered areas of acanthosis and parakeratosis. Slight inflammation around the blood vessels in theh upper part of the dermis. Mild atrophy on sweat glands.||Papillon-Lefevre syndrome, HOPP syndrome||X-rays||Dentist, Orthopedist|
|Harlequin ichthyosis||Harlequin Baby, Harlequin fetus, Ichthyosis congenita gravior||757.1||Found in inbred families||ABCA12||Premature birth, eversion of eyelids and lips, underdeveloped ears and nasal cartilage||Taut, armor-like skin||Birth||Yes||Yes||I, H||O||Defective lipid secretion of LG lipid contents, ABCA12 protein is restricted to the LGs in the cytoplasm of epidermal keratinocytes and fuses with the cell membrane to secrete the lipid content to the extracellular space of the stratum corneum.||none||Sepsis workup||Orthopedist|
|HOPP syndrome||hypotrichosis, acro-osteolysis/onychogryphosis, palmoplantar keratoderma and periodonitis||757.4||Cathepsin C||Dystrophic nails, Alopecia, decreased bone density||PPK- unspecified, psoriasis-like lesions||Early Childhood||Yes||No||H, N||D, O||Orthohyperkeratosis, hyperplasia, hyperparakeratosos, absent granular layer, elongated dermal papillae, perivascular lymphocytic infiltrate of the upper dermis||Papillon-Lefevre syndrome, Haim Munk Syndrome||Dentist|
|Howel-Evans Syndrome||Tylosis-esophageal carcinoma, non-epidermolytic PPK with carcinoma of the esophagus, Keratosis Palmaris et Plantaris with Esophageal cancer, TOC||757.4||TOC, 17q25||Associated with Esophageal carcinoma, Esophageal leukoplakia, follicular keratosis||Frictional hyperkeratosis (trauma), focal, thickened skin||Adolescence||No||No||F, M||C, G||Gross acanthosis, hyperkeratosis (sans parakeratosis) and hypergranulosis.||none||Oncologist, Gastroenterologist|
|Huriez syndrome||PPK with scleroatrophy, TYS, Sclerotylosis, Scleroatrophic and Keratotic Dermatosis of the Limbs||757.4||unknown (4q23)||Atrophic fibrosis of the limbs, hypoplasia of nails,higher risk for skin and bowel cancer, anhidrosis||thickening of palms, yellow-grey, dry, scaly, hyperkeratotic palms, malignant degeneration of affected skin||Birth||Yes||No||N, S||G||Absence of epidermal Langerhans cells, marked acanthosis, hypergranulosis, orthokeratotic hyperkeratosis, thickened collagen bundles||Marjolin Ulcer, Palmoplantar hyperkeratosis with squamous cell carcinoma||Skin Biopsy||Gastroenterologist|
|Hystrix-like ichthyosis-deafness syndrome||HID syndrome, Ichthyosis Hystrix-like with deafness||757.1||GJB2||Deafness, Ichthyosis, scarring alopecia, prone to bacterial and mycotic skin infections, mild impact on palms and soles||Diffuse spikey hyperkeratosis, erythematous patches||Birth||Yes||No||H, N, I||E||Excess formation of mucous-containing granules, reductions of tonofilaments||KID Syndrome, Lamellar Ichthyosis, Clouston syndrome||Audiologist|
|Keratisis-ichthyosis-deafness syndrome||KID syndrome, Erythrokeratodermia progressiva Burns||757.1||GJB2||Deafness, Ichthyosis, erythroderma, alopecia, declining vision, susceptibility to Squamous cell carcinoma||Severe affect on palms and soles, prone to skin infection||Birth||Yes||No||H, I||E, V||Excess formation of mucous-containing granules, reductions of tonofilaments||Desmons or Senter Syndrome, HID syndrome, Clouston Syndrome||Opthalmologist, Audiologist|
|Keratoderma climactericum||Haxthausen's disease||701.1||Menopausal women||unknown||Keratotic lesions on plantar pressure points, minimal hand involvement||Acquired||Allergist (for diagnostic testing)|
|Kindler syndrome||Poikiloderma, hereditary acrokeratotic, bullous acrokeratotic poikiloderma of kindler and weary, poikiloderma congenital with bullae weary type||757.4||Found mostly in Caucasian poplulation||FERMT1,KIND1||Dental overbite, reticulate erythema, bleeding gums||Thick, wrinikled skin and blistering of hands and feet, keratotic papules on hands, feet, elbows, and knees||Early Childhood||Yes||No||M, B||D||Hyperkeratosis, focal parakeratosis and acanthosis of the epidermis with loss of polarity of the basal layer.||Rothmund-Thomson syndrome, Dystrophyic Epidermolysis Bullosa, Bloom Syndrome||Dentist|
|KLICK syndrome||Keratosis linearis with ichthyosis congenital and slerosing keratoderma||757.4||POMP||PPK with pseudoainhum and a sclerosing flexion deformity of the fingers, noninflamed keratotoic striae on wrists, armfolds, and backs of the knees||Birth||No||No||I||No||Abnormal keratohyaline granules with enlarged and rounded shape in keratinocytes. Hyperkeratosis with a small number of parakeratotic cells. Normal granular layer.||Vohwinkel, KID syndrome||none|
|Lamellar ichthyosis||Non-bullous congenital ichthyosiform erythoderma, L1, Ichthyosis congenita type 2, Non-erythrodermic autosomal recessive lamellar ichthyosis||757.1||TGM1,ABCA12. P450||Alopecia, Collodion menbrane at birth||Brown plate-like scales with raised borders, palmoplantar hyperkeratosis||Birth||Yes||No||I, H||No||Acanthosis, hyperkeratotic layer of cornified cells. The granular cells are small cytoplasmic vacuoles. Many melanin granules in basal cells||HID syndrome, CIE||Sepsis workup||none|
|Meleda type||Mal de Meleda, MDM, Meleda Disease, Keratosis Palmoplantaris Transgradiens of Siemens||757.4||Inhabitants of the island of Mljet off the Dalmation Coast||SLURP-1, Ly-6/uPar (8q24.3)||Secondary fungal or bacterial infections, lesions on hands, elbows, and knees, hyperhidrosis||Palmoplantar thickening with erythematous border, cracked/waxy keratodermas||Birth-Early Childhood||Yes||Yes||S||No||Hyperkeratosis, hypergranulosis, Acanthosis, and chronic inflammatory dermal infiltrate||Vohwinkel, EPPK, NEPPK||none|
|Naegeli-Franceshetti-Jadassohn syndrome||Dermatopathia pigmentosa reticularis, NFJ syndrome, NFJS||757.4||K14||Discomfort in heat (diminished sweat gland function)||Palmoplantar hypohidrosis and hyperkeratosis, blistering, poor teeth, linear punctate keratoses, reticular cutaneous pigmentation||Early Childhood||No||No||B, S||D||Increased for increased apoptotic activity in the basal cell layer||Dyskeratosis Congenita, Incontinentia pigmenti, Dermatopathia pigmentosa reticularis||Eccrine testing||Dentist|
|Naxos disease||Diffuse PPK with woolly hair and arrhythmogenic cardiomyopathy, Mal De Naxos, Keratosis palmoplantaris with arrhythmogenic cardiomyopathy||757.4||Mediterranean decent||Plakoglobin (17q21)||cardiac abnormality (right ventricular)||Woolly hair, hyperkeratosis, hypergranulosis, and acanthosis (PPK)||Birth-Adolescence||Yes||No||H||H||Compact hyperkeratotsis, hypergranulosis, and acanthosis, subepidermal vessels were dilated , mild mononuclear cell infiltrate||Ebstein anomaly, Carvajal syndrome, other PPKs||EKG||Cardiologist|
|Netherton syndrome||Comel-Netherton Syndrome, NS, Ichthyosis linearis circumflexa, Trichorrhexis invaginata, NTS||757.1||Found mostly in women||SPINK5||Imbalance of immune system, alopecia, bamboo hair, short stature||Ichthyotic skin, scaling,eczemous plaques||Birth||Yes||No||I, H||G||stratum corneum layer was replaced by parakeratotic cells, premature secretion of lamellar body contents||CIE, Atopic Dermatitis, Erythrodermic psoriasis||RAST test||Allergist|
|Non-epidermolytic PPK (NEPPK)||Unna-Thost type, Keratoderma||757.4||K6, K1, K7, K16||Secondary infections, nails can be stubby||Erythematous, thickened palmoplantar skin, thick, yellow hyperkeratosis||Birth-Early Childhood||Yes||No||N, B||No||Hyperkeratosis of the stratum corneum (no epidermolysis), cells of granules characteristic of epidermolytic hyperkeratosis||EPPK, Mal De Meleda, Howel-Evans Syndrome||none|
|Oculodentodigital dysplasia||ODD syndrome, Oculodentoosseous dysplasia, ODDD, ODOD||757.4||GJA1(Cx43)||Narrow nose, small teeth, syndactyly, missing toes, glaucoma, deafness, dysplastic iris, sparse hair, enamelogenesis imperfecta||Folicular hyperkeratosis, scaly plaques||Birth-Early Childhood||No||No||H, N, F||N, O, V, E, H||Electron microspcopy conducted on hair: focal, semi-smooth ovoid dells in the beaded areas||Francois dyscephalic syndrome||Neurologist, Orthopedist, Opthalmologist, Audiologist, Cardiologist|
|Olmsted syndrome||mutilating PPK with perioficial plaques||757.4||Affects men 75% more than women||K5, K14||Susceptible to infections, deafnes, hyperkeratotic nails, necrotic blisters||Erythema, hyperkeratotic plaques, scaling, hyperpigmentation, yellow fissures||Early Childhood||Yes||No||B, N||E||Hyperkeratosis, acanthosis, and papillomatosis.||Acrodermatitis Enteropathica, Vohwinkel syndrome, mucocutaneous candidiasis||Audiologist|
|Pachyonychia congenita||Jadassohn-Lewandowsky type, Jackson-Lawler type||757.5||Increased in Slavic/Jewish populations||K16, K6a||thickened nails, natal teeth, hoarseness, oral leukokeratosis||Painful plantar calluses||Early Childhood||No||No||H, N, B, M, S||D||Keratin filaments aggregate and filament structure is weakened and less resilient leading to greater trauma experienced, increased blister formation and increased callusing.||Clousten syndrome, Dyskeratosis congenita, Weber-Cockayne syndrome||none|
|Papillon-Lefevre syndrome||PPK with periodontitis, PALS, PLS, Keratosis Palmoplantaris with Periodontopathia||757.4||Cathepsin C,DPPI||Loss of teeth||varied palmoplantar involvement (psoriasiform scaly sin to overt hyperkeratosis), knees and elbows may also be affected||Early Childhood||No||Yes||No||D, N||Predominance of plasma cells in the lamina propria||Maleda type, Haim-Munk Syndrome, HOPP syndrome||Neurologist, Dentist|
|PPK striata/areata type||Striate PPK, focal non-epidermolytic PPK, Wachters type, Brunauer-Fuhs-Seimens type, Hereditary painful callosites||757.4||Dsg1, K16||Painful fissures over pressure areas, friction associated trauma, increased skin fragility||Yellow linear calluses on soles and palms||Childhood||No||Yes||No||No||Hyperkeratosis, hypergranulosis, moderate acanthosis without inflammatory cell infiltrate in the dermis||Other PPKs||none|
|Punctate palmoplantar keratoderma (PPPK)||Keratosis punctata palmaris et plantaris, Buschke-Fischer-Brauer type||757.4||Unknown||Pits with keratotic plugs on the plantar aspects of both soles and palms. Spinous keratoses on volar aspects of hands and feet||Adolescence||No||No||No||No||Columnar parakeratosis from the malpigian layer with little granular layer||Verrucae Vulgaris||none|
|Rapp-Hodgkin syndrome||RHS||757.3||TP63||Anhidrotic ectodermal dysplasia, cleft lip/palate, syndactyly, small mouth and nose, alopecia, atretic ear canals||PPK has been reported though no description has been found||Birth||No||No||H, N, S||E, O, D||AEC, EEC, Hay-Wells Syndrome||Audiologist, Orthopedist, Dentist|
|Refsum Syndrome (Infantile)||IRD, Infantile Phytanic Acid Storage Disease||356.3||PEX1, PEX2, PEX26||Facial Dysmorphism, hearing loss, osteoporosis, hepatomegaly, mental retardation||PPK has been reported though no description has been found||Birth||No||No||I||N, V, H, G||Zellweger Syndrome, Adrenoleukodystrophy||Blood Plasma work- elevated phytanic levels||Neurologist, Opthalmologist, Cardiologist, Nutritionist|
|Refsum Syndrome 1 and 2 (Adult)||Refsum Disease, Phytanic acid oxidase deficiency, Heredopathia Atactica Polyneuritiformis, Hereditary Motor and sensory neuropathy IV, HMSN IV||356.3||PHYH, PAHX, PEX7||Retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, cardiac dysfunction, deafness, Ichthyosis||PPK has been reported though no description has been found||Adolescence-Adulthood||No||No||I||N, V, H, G||Zellweger Syndrome, Infantile Refsum Syndrome, Ichthyosis Vulgaris, Rhizomelic Chondroplasia Punctata||Blood Plasma work- elevated phytanic levels||Neurologist, Opthalmologist, Cardiologist, Nutritionist|
|Richner-Hanhart Syndrome||Tryrosinemia type II, Oculocutaneous tyrosinemia, TAT deficiency, Keratosis palmoplantaris with corneal dystrophy, Tyrosinosis Oculocutaneous type, tyrosine aminotransferase deficiency||270.2||Incestuous result||TAT (chrom 16)||Photophobia, dendritic keratitis, corneal ulcerations, elevated tyrosine aminotransferase||Painful, hyperkeratotic, rigid palmoplantar yellow-white papules and plaques||Childhood-Adolescence||No||No||No||V, G||increased synthesis of tonofibrils and keratohyalin, many microtubules and tight packing of basal cells of the epithelium||none||Urine test- elevated hydroxyphenylpyruvic acid. Elevated serum tyrosine levels.||Gastroenterologist/Nutritionist, Ophthalmologist|
|Schopf-Schulz-Passarge syndrome||PPK with hidrocystomas, hypodontia and hypotrichosis, Eccrine tumors with extodermal dysplasia, Keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis||757.4||WNT10A||Hypodontia, hypotrichosis, eyelid cysts, nail fragility, susceptible for basal cell carcinoma, abnormal deciduous teeth, excessive sweating||diffuse keratoderma with a well-defined border||Early Childhood||No||No||N, M, S||D, E||Papillon-LeFevre Syndrome||Dentist, Opthalmologist|
|Sjogren-Larsson syndrome||SLS, FALDH deficiency, Fatty Aldehyde Dehydrogenase Deficiency, Ichthyosis spastic neurologic disorder and oligophrenia, Fatty alcohol: NAD+ Oxidoreductase deficiency||757.1||ALDH3A2||Spastic quadriplegia, pigmentary retinal degeneration, short stature, photophobia, dental dysplasia||Hyperkeratosis and gray-brown scaling||Birth||Yes||No||I||G, N, E, D||Papillomatous epideris with hypergranulosis,impaired hexadecanol oxidation||CIE||Blood work- fatty aldehyde dehydrogenase deficiency||Nutritionist, Neurologist, Opthalmologist, Dentist|
|Vohwinkel syndrome||Mutilating PPK, Keratoderma Hereditarium, KHM, Keratoma Hereditaria Mutilans||757.4||Cx26 (GJB2),K1, Loricrin||Constricting bands of the fingers and toes, hearing loss, spastic paraplegia, Ichthyosis, Acanthosis, Alopecia||honeycomb or star-shape hyperkeratotic plaques on the dorsa of feet, hands, knees, and elbows--yellowish thickening on palms and soles||Birth||No||Yes||H, I||E, O||Hyperkeratosis, focal parakeratosis, hypergranulosis, papillomatous acanthosis. Mild perivascular mononuclear infiltrate||Mal de Maleda, Bart-Pumphrey syndrome, Xanthomata, Olmstead syndrome||Audiologist, Orthopedist|
What you should be alert for in the history
Questions regarding age of onset, past medical history, family information (geographic as well as medical history), erythema, involvement and inclusion of the dorsal aspects of hands and feet should be asked and considered during a clinical examination.
Characteristic findings on physical examination
Characteristic findings on physical examination are variable depending on the gene affected as well as the manifestation which varies from person to person. Please refer to the column “Distinguishing PPK features” on the accompanying table for the most common manifestations of each syndrome. PPKs are generally classified in three categories: Focal, Diffuse, and Punctate.
Positive gene defect results should be expected for the disorders with known genetic causation. Outcomes from other forms of testing such as blood work, urinalysis, or x-ray can be found on the “work-up and treatment” column on the accompanying table.
Diagnosis confirmation is gained by pathologic and/or genetic testing or by observing the natural course of the disease. Family history and examination of affected family members can be helpful. Consulting a geneticist is recommended for counseling.
Who is at Risk for Developing this Disease?
PPKs are primarily genetic and/or hereditary. The mode of inheritance can be autosomal recessive, autosomal dominant, x-linked, a combination of all three, or acquired. The mode of inheritance for all of the PPK syndromes can be found in the “notes” section on the included table.
What is the Cause of the Disease?
The cause for a PPK is highly variable. The genetic basis for many of these disorders is known. Genetic testing for those will identify a pathogenic gene defect. Please refer to the “Genetic Cause/Association” column for gene defect information for each syndrome.
Systemic Implications and Complications
Several PPKs are associated with severe systemic problems such as gastrointestinal, neurological, or cardiac involvement. Disorders with severe systemic implications whould be ruled out first. There are a few syndromes to be highlighted due to the high occurrence of associated cancer:
Howel-Evans is characterized by the onset of esophageal carcinoma. Until esophageal carcinoma develops, it is difficult to accurately diagnose this syndrome (See
Huriez Syndrome has an elevated risk of developing Squamous Cell carcinoma of the skin (See
KID syndrome reportedly has a susceptibility to Squamous Cell carcinoma of the skin (See
Olmsted Syndrome is at risk for development of Squamous Cell carcinoma in hyperkeratotic skin (See
Traditional forms of treatment for PPKs include keratolytics (salicylic acid up to 25%, propylene glycol, urea 5%-10%), oral (acitretin) or topical retinoids such as adapalane, topical Vitamin D, topical steroids, tetracyclines, antibiotics (choice depending on the bacterial species and resistance pattern) or antifungals (when needed), and mechanical debridement.
Treatment should be tailored to the patient’s individual symptoms. The above treatments have been listed as successsful in certain cases. The patient should be seen in follow up as needed to ease the symptoms.
Optimal Therapeutic Approach for this Disease
It is very rare for an optimal therapeutic approach to exist for these disorders. Evidence from trials is lacking for the established treatments. Most patients require symptomatic relief as discussed in “Treatment options” above.
Treatment (cure) of the tumor/cancer in Howell Evans syndrome does not result in resolution of the PPK.
As noted in the “Additional Specialists Needed” column on the attached table, a helpful patient management tactic for PPKs is to be familiar with the systemic implications associated with PPKs. This will enable a physician to refer his or her patients to the correct specialist.
Unusual Clinical Scenarios to Consider in Patient Management
Manifestations of each PPK may altered by an underlying inflammatory infection, fungal, or bacterial component. Also, be aware of the possibility that a clincal presentation might be a combination of one or more individual disorders.
Blecher, SR, Kapalanga, J, Lalonde, D. "Induction of sweat glands by epidermal growth factor inmurine X-linked anhitdrotic ectodermal dysplasia". Nature Genet. vol. 345. 1990. pp. 542-4.
Clarke, A, Burn, J. "Sweat testing to identify female carriers of X linked hypohidrotic ectodermal dysplasia". J Med Genet. vol. 28. 1991. pp. 330-3.
Clarke, A. "Hypohidrotic ectodermal dysplasia". J Med Genet. vol. 24. 1987. pp. 659-63.
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