This group of disorders known as palmar plantar keratodermas (PPK) are characterized by diffuse or localized hyperkeratosis of the palms and soles with additional skin abnormalities. Clinically three patterns have been identified: diffuse over the palm and sole, focal with large keratin masses at points of friction, and punctate with tiny drops of keratin on the palmoplantar surface. In addition, cases associated with oral, hair, nail, dental, auditory, or neuronal abnormalities have been termed palmoplantar ectodermal dysplasia (PED). In addition to the inherited disorders, several disorders may have an associated keratodermas. Some are genodermatoses such as ichthyosis syndromes.
Disease Associations Pathogenesis Laboratory/Radiologic/Other Diagnostic Testing Gross Appearance and Clinical Variants Histopathological Features and Variants Treatment Commonly Used Terms Internet Links
DISEASE ASSOCIATIONS CHARACTERIZATION Acquired Keratodermas Genodermatoses Associated
Tuberculosis verrucosa cutis
Basal cell nevus syndrome
Congenital bullous ichthyosiform erythroderma
Epidermolysis bullosa simplex
Pityriasis rubra pilaris
Congenital Keratodermas Without Associated Manifestations
Name Additional Names Manifestations Diffuse epidermolytic PPK Vorner's epidermolytic PPK
Well demarcated symmetrical thickening of the plams and soles with dirty appearance
Epideromlysis on biopsy
Diffuse nonepidermolytic PPK Unna-Thost disease AD
Waxy involvement of plams and soles
Erythrokeratoderma variabils Progressive symmetric erythrokeratoderma, keratosis palmoplantaris transgrediens et progrediens AD
Sharply outlined geographic areas not limited to palms and soles
PPK of Sybert Greither's PPK AD
Glove and stocking distribution
Name Additional Names Manifestations Striate PPK Brunaauer-Fuhs-Siemens type, Wachters PPK AD
Striate linear callouses usually on soles and palms
Name Additional Names Manifestations Keratosis punctata palmaris et plantaris Buschke-Fischer-Brauer disease AD
Develops between 12-30 yrs.
Multiple punctate keratosis
Spiny keratoderma Punctate keratoderma AD
Multiple tiny keratotic plugs mimicking spines
Focal acral hyperkeratosis Degenerative collagenous plaques of the hands AD
Oval or polygonal crateriform papules
PPK wth Associated Manifestations (Palmoplantar Ectodermal Dysplasias-PED)
PED Type Name Manifestations I Pachyonychia congenita (Jadassohn-Lewandowsky syndrome)
Plantar calluses with sparing of non-weight bearing digits
Upward angulation of the distal end of nails with subungual hyperkeratosis giving a "door-wedge" appearance
Focal palmoplantar keratoderma with oral mucosa hyperkeratosis AD
Clinical overlap with PED I with no nail changes
Oral hyperkeratosis esp. in labial attached gingiva
II Pachyonychia congenita type II
Limited focal plantar keratoderma
Nail changes like PED I
III PPK associated with esophageal carcinoma
Keratoderma over pressure points, sparing of non-weight bearing areas
Palms usually spared
10-90% risk of esophageal CA
IV Papillon-Lefevre syndrome AR
Focal with punctiform accentuation of palmoplantar surfaces with accentuation of creases
May spread to elbows and knees
Deafness, calcification of dura
V Oculocutaneous tyrosinemia
Painful circumscribed callosities on pressure points
Photophobia and corneal erosions
Treat with low tyrosine and phenylalanine diet
VI Olmsted syndrome
(Mutilating PPK with periorificial keratotic plaques)
Diffuse multilating PPK with flexion deformity of the digits
Progressive perioral, perianal, and perineal hyperkeratotic plaques
VII Vohwinkel's syndrome
(Keratoderma herditaria multilans)
Spread to extensor surfaces
VIII Mal de Meleda
(Mutilating PPK of the Gamborg-Nielsen type)
Diffuse and symmetric PPK spreading to the dorsa in glove and stocking distribution
Constricting bands with autoamputation of digits
IX Huriez Syndrome AD
Diffuse symmetric PPK with fingers having a pseudosclerodermatous appearance
X Hidrotic ectodermal dysplasia
Diffuse keratoderma,progressive with age, preservation of dermatoglyphics
Structural hair defects
Ocular and skeletal abnormalities
XI Congenital Poikiloderma with traumatic bulla formation, anhidrosis, and keratoderma
Reticulate pigmentation around neck and axilla
Diffuse keratoderma with punctiform and linear accentuations
Normal hair, nail changes
Tooth enamel defects
XII Acrokeratotic poikiloderma
Hyperpigmentation about 12 years age
Cobblestoned keratoderma with spread to dorsa of hands and feet
Acral bullae and acral lichenoid keratoses
XIII Dermatopathic pigmentosa reticularis
Reticulate hyperpigmentation with truncal accentuation
PPK with punctiform accentuation
Atrophic erythematous macules over joints
Severe periodontal disease
XIV Woolly hair and endomyocardial fibrodysplasia AR
PPK over pressure points
Woolly hair over scalp with short scanty eyebrows, eyelashes, beard, pubic hair
Endomyocardial fibrodysplasia with venticular tachycardia and right ventricular dilatation
XV PPK with sensorineural deafness
Extensive focal PPK may extend to Achilles' tendon
XVI Keratitis-Ichthyosis-Deafness syndrome (KID syndrome) AR
Erythroderma well demarcated serpiginous outline
Diffuse keratoderma with reticulate surface
XVII Corneodermatosseous Syndrome AD
Short stature and brachydactyly
XVIII PPK and spastic paraplegia
AD or X linked Dominant
Thick focal keratoderma
Pes cavus, frontal balding, spastic paraplegia and mental retardation
XIX Eyelid cysts, PPK, hypodontia, and hypotrichosis
PPK with fragile nails
Sparse hair with eyelid cysts
Loss of teach
Multiple squamous cell carcinomas in areas of keratoderma
XX Cardiofaciocutaneous syndrome AR
High boxy craniofacial appearance
Motor and growth retardation
Congenital cardiac defects
Dystrophic nails and teeth
OTHER VARIANTS AND ASSOCIATIONS
VARIANT CHARACTERIZATION AQUAGENIC
Aquagenic palmoplantar keratoderma
Albert C. Yan, etal.
J Am Acad Dermatol 2001;44:696-9. Abstract quote
Aquagenic palmoplantar keratoderma is an acquired condition characterized by burning and edema limited to the hands after brief immersion in water.
The 3 patients described possess a striking similarity to those with transient reactive papulotranslucent acrokeratoderma. All 3 patients manifested the “hand-in-the-bucket” sign, having presented to a physician with a hand immersed in a bucket of water to more promptly demonstrate the physical findings.
Aluminum chloride hexahydrate represents a potentially valuable therapeutic option for this unusual condition.
In 1996 English and McCollough described two sisters with an unusual acquired condition characterized by burning and edema affecting the palms after brief immersion in water. They coined the term transient reactive papulotranslucent acrokeratoderma to describe their two patients. No successful treatment modalities were described. We describe 3 additional patients with very similar clinical findings to those seen by English and McCollough. All 3 patients were young women who presented with an acquired condition characterized by burning and edema affecting primarily the palms and, in one case, the soles after exposure to water. Our patients responded to topical therapeutic interventions. Because of distinct differences between hereditary papulotranslucent acrokeratoderma and those features seen in these patients, we believe the term aquagenic palmoplantar keratoderma more accurately reflects the clinical features of this condition
Keratoderma climactericum (Haxthausen's disease): clinical signs, laboratory findings and etretinate treatment in 10 patients.
Deschamps P, Leroy D, Pedailles S, Mandard JC.
Dermatologica 1986;172(5):258-62 Abstract quote
10 cases of keratoderma climactericum are reported. This keratosis of the palms and soles appears late in women of menopausal age. The keratotic lesions first develop at the plantar pressure points, making walking troublesome. Involvement of the hands remains discrete. Examination for contact allergy, fungal tests, vitamin A serum levels, and sex hormones were negative or normal in all the 10 patients.
Microscopy revealed a lichenified eczema with evidence of mechanical irritation. Etretinate (0.78 mg/kg/day) brought about partial or total remission of the hyperkeratosis. Pain on walking disappeared in all the patients.
Olmsted Syndrome Report of a Case With Study of the Cellular Proliferation in Keratoderma
Luis Requena, M.D.; Felix Manzarbeitia, M.D.; Carmen Moreno, M.D.; Maria Jose Izquierdo, M.D.; Maria Antonia Pastor, M.D.; Loreto Carrasco, M.D.; Maria Carmen Fariña, M.D.; Lucia Martín, M.D.
From the Departments of Dermatology (L.R., M.J.I., M.A.P., L.C., M.C.F., L.M.) and Pathology (F.M., C.M.), Fundación Jiménez Díaz, Universidad Autónoma, Madrid, Spain.
Am J Dermatopathol 2001;23:514-520 Abstract quote
Olmsted syndrome is a rare disorder that consists of sharply marginated keratoderma of the palms and soles, constriction of digits and toes that may result in spontaneous amputation of the distal phalanges, hyperkeratotic plaques around the body orifices, onychodystrophy, and other less common cutaneous and extracutaneous anomalies. Although some patients had other affected family members, most cases of Olmsted syndrome seem to be of sporadic occurrence.
We describe a patient with the characteristic features of Olmsted syndrome. The symptoms consisted of diffuse transgrediens palmoplantar keratoderma and keratotic plaques around the mouth and nose. Our patient also had the associated anomalies of hyperhidrosis of the palms and soles and congenital deaf-mutism.
Histopathologic study of the keratoderma demonstrated epidermal hyperplasia with acanthosis, papillomatosis, and orthokeratotic hyperkeratosis. Immunohistochemical study showed more basal and suprabasal keratinocytes of the epidermis with immunoreactivity for Ki-67 marker when compared with the keratinocytes of the epidermis of the adjacent non-involved skin. These results support the notion that Olmsted syndrome is a hyperproliferative disorder of the epidermis.
The molecular basis of hereditary palmoplantar keratodermas.
Kimyai-Asadi A, Kotcher LB, Jih MH.
Ronald O. Perelman Department of Dermatology, The New York University School of Medicine.
J Am Acad Dermatol 2002 Sep;47(3):327-43 Abstract quote
In recent years, the gene defects causing many types of hereditary palmoplantar keratoderma have been discovered. These genes encode a variety of proteins involved in the terminal differentiation of keratinocytes and the formation of the cornified cell envelope.
In this article, we review the molecular defects underlying various palmoplantar keratodermas with particular attention to the role of these molecules in the terminal differentiation of palmoplantar epidermis. Of the proteins involved in keratodermas, loricrin, keratins, and desmosomal proteins provide the protein structure of the cornified cell envelope. Connexins form intercellular gap junctions, which regulate ionic calcium signals necessary for the expression of the proteins that form the cornified cell envelope. Cathepsins likely mediate enzymatic processes necessary for the formation and dissolution of the cornified cell envelope. The clinical phenotypes produced by various mutations affecting these proteins are discussed vis-a-vis data from genetic, cellular, and molecular experiments. (J Am Acad Dermatol 2002;47:327-43.)
Learning objective: At the completion of this learning activity, participants should be familiar with the genetic and molecular basis of hereditary palmoplantar keratodermas. The participants should also have more knowledge about the process of epidermal differentiation and formation and dissolution of the cornified cell envelope.
TREATMENT CHARACTERIZATION GENERAL ACITRETIN
Papillon-Lefevre syndrome: the response to Acitretin.
Division Of Dermatology/Department of Medicine, King Abdulaziz Medical City, King Fahad National Guard Hospital, Saudi Arabia.
Int J Dermatol 2002 Dec;41(12):938-41 Abstract quote
Papillon-Lefevre syndrome is a rare autosomal recessive disease comprising palmoplantar keratoderma and periodontitis. Palmoplantar keratoderma can be severe, necessitating systemic treatment. Different systemic retinoids were found to be highly efficacious.
We describe the successful use of acitretin in one patient who had severe palmoplantar keratoderma, with maintenance of the improvement using topical treatment.
Effect of scalpel debridement on the pain associated with plantar hyperkeratosis.
Redmond A, Allen N, Vernon W.
Division of Podiatry, University of Western Sydney-Macarthur, Campbelltown, New South Wales, Australia.
J Am Podiatr Med Assoc 1999 Oct;89(10):515-9 Abstract quote
Seventy-nine subjects from 14 centers in eight English National Health Service Trusts recorded their levels of preoperative and postoperative pain and perceived change in pain on 100-mm visual analog scales before and after scalpel debridement of painful plantar hyperkeratosis.
A significant reduction in pain was reported following treatment, and there were highly significant differences between the preoperative and postoperative scores. There were no age- or sex-related differences in any of the preoperative, postoperative, or perceived-change scores.
The objective data support the anecdotal evidence that scalpel debridement of painful plantar hyperkeratosis is immediately effective in the palliative management of such patients.
Mutilating palmoplantar keratoderma successfully treated with etretinate.
Acta Derm Venereol 1984;64(6):566-9 Abstract quote
Three patients, a mother and her two sons, with mutilating palmoplantar keratoderma (Vohwinkel's syndrome) were successfully treated with oral etretinate (Tigason).
All of them had keratotic constriction furrows of one or more digits (pseudo-ainhum) with threatening spontaneous amputation. Oral treatment with etretinate brought about disappearance of the pseudo-ainhums and normalization of the digital blood circulation. The hyperkeratotic skin became thinned and pliable with a dose-dependent trend towards redness and atrophy.
Continued long term etretinate medication has made it possible for these patients to fulfill their social and occupational activities. All 3 patients had acoustic impairment of high-pitched tone perception.
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Progrediens-Progression with age.
Transgrediens-Extent of spread.
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