Lipoid Proteinosis Clinical Presentation

  • Author: Kelly M Cordoro, MD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Nov 29, 2011
 

History

  • A weak or hoarse cry from birth or starting in early infancy is typical and remains throughout life. Cutaneous manifestations usually arise during the first 2 years of life.
  • Skin findings manifest in sequential but overlapping stages.
    1. Initially, an inflammatory, vesicular, and crusted eruption appears on the face and extremities and may resemble impetigo or acne. The lesions are self-limited, occur predominantly in sites of trauma, and ultimately heal with scarring.
    2. The second stage is characterized by dermal deposits of amorphous hyaline material, creating a diffuse, waxy, thickened appearance that is most apparent on the skin of the face, eyelids, axillae, and scrotum, although any cutaneous site is vulnerable.
    3. Verrucous papules and plaques then arise on surfaces subject to friction, such as the elbows, knees, and hands.
  • Children may have seizures, behavioral changes, learning difficulties, and rage attacks resulting from characteristic temporal lobe calcifications. A case of striatal calcifications associated with generalized dystonia has been reported.
  • A positive family history may be elicited because the disease is inherited in an autosomal recessive pattern.[4, 5]
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Physical

Characteristic physical findings are thought to result from the deposition of hyaline material in the skin and mucous membranes.

  • Skin
    • Early findings include recurrent, variably sized vesicles, pustules, bullae, and hemorrhagic crusts that arise on the skin and in the mouth and throat. The face and distal extremities are the most common sites. Resolution of the lesions occurs with permanent, poxlike atrophic scarring.
    • Late findings are noted as the child ages; the skin develops a waxy, thickened, yellowish appearance due to dermal infiltration. Papules, plaques, and nodules arise on the face, axillae, and scrotum. A pathognomonic sign is a row of beaded papules along the eyelid margins, resembling a string of pearls; this is termed moniliform blepharosis.[6, 5]
    • Hyperkeratotic, verrucous plaques may arise in sites of trauma, particularly the elbows, knees, and dorsum of the hands. A generalized hyperkeratosis and widespread scale may occur.
  • Scalp: Involvement manifests as patchy or diffuse hair loss.
  • Oral cavity: All sites within the oral mucosa may be involved. Pebbling of the lip mucosa imparts a cobblestone appearance, which may also involve the tongue and gingiva. Infiltration of the tongue and frenulum results in a woody firmness and impaired mobility. Patients may not be able to fully protrude the tongue, and this may be associated with impaired speech and gustation. Transient swelling and ulceration of the lips and tongue may occur. Hypoplasia or aplasia of the teeth, particularly the lateral incisors and premolars, may occur. Recurrent parotitis may occur as a consequence of infiltration of the Stensen duct.
  • Upper airway: Infiltration of the larynx, vocal cords, and surrounding structures may produce hoarseness, dysphagia, and airway obstruction.[5]
  • Central nervous system: A classic and pathognomonic radiographic finding is bilateral, intracranial, bean-shaped suprasellar calcifications in the temporal lobe.
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Causes

Loss of function mutations in the gene encoding extracellular matrix protein 1 (ECM1) on band 1q21 has been identified as the cause of lipoid proteinosis.[1, 2] The exact mechanistic correlation between the genetic mutations described and the clinical manifestations of the disease remains unclear.

The Medscape Genomic Medicine Resource Center may be of interest.

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Contributor Information and Disclosures
Author

Kelly M Cordoro, MD  Assistant Professor of Clinical Dermatology and Pediatrics, Department of Dermatology, University of California, San Francisco School of Medicine

Kelly M Cordoro, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Association of Professors of Dermatology, Dermatology Foundation, Medical Society of Virginia, National Psoriasis Foundation, Society for Pediatric Dermatology, and Women's Dermatologic Society

Disclosure: Nothing to disclose.

Coauthor(s)

Michael F Osleber  University of Virginia School of Medicine

Disclosure: Nothing to disclose.

Vincent A De Leo, MD  Clinical Professor of Dermatology, Department of Dermatology, College of Physicians and Surgeons of Columbia University; Chairman, Department of Dermatology, Director of Dermatology Residency Training Program, St Luke's-Roosevelt Hospital Center; Chairman, Department of Dermatology, Beth Israel Medical Center

Vincent A De Leo, MD is a member of the following medical societies: American Academy of Dermatology, American College of Occupational and Environmental Medicine, American Contact Dermatitis Society, American Dermatological Association, American Medical Association, American Society for Photobiology, Dermatology Foundation, New York Academy of Medicine, New York County Medical Society, Photomedicine Society, Society for Investigative Dermatology, Society of Toxicology, and Women's Dermatologic Society

Disclosure: estee lauder Consulting fee Consulting; laroche posay Consulting fee Consulting; schering plough Consulting fee Consulting; pfizer Consulting fee Consulting; orfagen Grant/research funds study - clinical

Specialty Editor Board

Bernice R Krafchik, MBChB, FRCPC  Professor Emeritus, Department of Pediatrics, Section of Dermatology, University of Toronto

Bernice R Krafchik, MBChB, FRCPC is a member of the following medical societies: American Academy of Dermatology, American Dermatological Association, Canadian Medical Association, College of Physicians and Surgeons of Ontario, Royal College of Physicians and Surgeons of Canada, and Society for Pediatric Dermatology

Disclosure: Nothing to disclose.

Michael J Wells, MD  Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine

Michael J Wells, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, and Texas Medical Association

Disclosure: Nothing to disclose.

Lester F Libow, MD  Dermatopathologist, South Texas Dermatopathology Laboratory

Lester F Libow, MD is a member of the following medical societies: American Academy of Dermatology, American Society of Dermatopathology, and Texas Medical Association

Disclosure: Nothing to disclose.

Catherine M Quirk, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania

Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD  Director, Ackerman Academy of Dermatopathology, New York

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

The authors and editors of eMedicine gratefully acknowledge the contributions of previous coauthor, Joseph J. Shaffer, MBBS, to the development and writing of this article.

References

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Characteristic beaded papules on the eyelid (moniliform blepharosis). Courtesy of Kenneth E. Greer, MD.
Waxy, yellow skin thickening and atrophic scarring. Courtesy of Kenneth E. Greer, MD.
Beaded papules on the upper labial mucosa. Courtesy of Kenneth E. Greer, MD.
Woody induration and depression of the tongue. Courtesy of Kenneth E. Greer, MD.
Waxy, infiltrated, yellowish skin with depressed, atrophic scarring. Courtesy of Kenneth E. Greer, MD.
Waxy skin with atrophic, depressed scars on the forehead. Courtesy of Kenneth E. Greer, MD.
Infiltrated, thickened skin with atrophic and hyperpigmented scarring in 2 brothers with lipoid proteinosis. Note the tongues, which are firm and woody, ulcerated, and unable to be completely protruded because of infiltration of the frenulum. Courtesy of Kenneth E. Greer, MD.
Adult male with lipoid proteinosis. His leonine facies appearance is a result of diffuse skin infiltration. Courtesy of Kenneth E. Greer, MD.
 
 
 
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