eMedicine Specialties > Dermatology > Pediatric Diseases

CHILD Syndrome: Treatment & Medication

Author: Neil Alan Fenske, MD, Chairman, Department of Dermatology and Cutaneous Surgery, Professor, Department of Dermatology and Cutaneous Surgery, Department of Pathology and Cell Biology, Department of Oncologic Sciences, University of South Florida College of Medicine
Coauthor(s): Elizabeth Arrington, MD, Resident Physician, Department of Dermatology, University of South Florida; Babak Roshdieh, MD, Consulting Staff, Department of Dermatology, Sierra View District Hospital; Richard (Rick) L Moore, MD, Staff Physician, Department of Dermatology and Cutaneous Surgery, University of South Florida
Contributor Information and Disclosures

Updated: Mar 10, 2009

Treatment

Medical Care

Skin disease can be treated with topical or systemic retinoids. Surgical excision is also an option in certain cases. Orthopedic abnormalities can be treated with braces or corrective surgery. Other medical care is dictated by the organ system(s) involved.

Consultations

Treatment of a patient with CHILD syndrome is multidisciplinary and dictated by the organ(s) involved. Consultation of the following physicians may be necessary:

  • A dermatologist for management of the cutaneous findings
  • A pediatric orthopedic surgeon for evaluation and treatment of the musculoskeletal deformities
  • A geneticist for counseling and for genetic testing
  • A neurologist, cardiologist, or nephrologist, depending on the organ system(s) involved

Medication

Cutaneous findings are treated with systemic or topical steroids. Keratolytics have also been advocated.

Keratolytics

These agents are used for symptomatic relief of dry, scaling skin. They also help exfoliate the skin.


Lactic acid 12% (Lac-Hydrin, AmLactin) creams or lotions

Relieves itching and aids healing of skin in persons with mild eczemas and dermatoses, minor wounds, and minor skin irritations. Lactic acid is an alpha-hydroxy acid.

Adult

Apply 1-3 times/d

Pediatric

Apply as in adults

Pregnancy

C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus

Precautions

May cause stinging and burning at the site of application


Urea (Ureacin, Ureaphil, Carmol) creams or lotions

Used topically in the treatment of dry skin. Promotes hydration and removal of excess keratin in conditions of hyperkeratosis. At concentrations of 10-40%, it has a keratolytic effect.

Adult

Apply 1-3 times/d

Pediatric

Apply as in adults

Documented hypersensitivity; viral skin disease

Pregnancy

C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus

Precautions

Do not use near eyes; caution if applied to broken or swollen skin; local irritation may occur at site of application; some commercially available preparations contain sulfites, which may cause an anaphylactic response in individuals who are susceptible

Retinoids

Topical and systemic retinoids have been advocated to help normalize the keratinization of the epidermis.


Tretinoin (Retin-A, Avita, Renova)

Normalizes keratinization.

Adult

Apply topically to affected areas qhs

Pediatric

<12 years: Not established
>12 years: Administer as in adults

Other skin irritants (ie, astringents, benzoyl peroxide, salicylic acid, resorcinol, topical sulfur, other keratolytics, abrasives, astringents, spices, lime) may exacerbate irritation; coadministration with other drugs that cause photosensitivity (eg, tetracycline, sulfonamides) may increase risk of sunburn

Pregnancy

C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus

Precautions

Photosensitivity may occur with excessive sunlight exposure; burning, stinging, peeling, pruritus, or erythema has been reported at site of application; caution with eczema (may cause severe irritation); avoid contact with mucous membranes, mouth, and angles of nose

More on CHILD Syndrome

Overview: CHILD Syndrome
Differential Diagnoses & Workup: CHILD Syndrome
Treatment & Medication: CHILD Syndrome
Follow-up: CHILD Syndrome
References
[ CLOSE WINDOW ]

References

  1. Bittar M, Happle R. CHILD syndrome avant la lettre. J Am Acad Dermatol. Feb 2004;50(2 Suppl):S34-7. [Medline].

  2. Zellweger H, Uehlinger E. Ein Fall von halbseitiger knochenchondromatose (Ollier) mit naevus ichthyosiformis. Helv Paediatr Acta. May 1948;3(2):153-63. [Medline].

  3. Happle R, Koch H, Lenz W. The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects. Eur J Pediatr. Jun 1980;134(1):27-33. [Medline].

  4. Hummel M, Cunningham D, Mullett CJ, Kelley RI, Herman GE. Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene. Am J Med Genet A. Oct 15 2003;122A(3):246-51. [Medline].

  5. Konig A, Happle R, Fink-Puches R, Soyer HP, Bornholdt D, Engel H, et al. A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement. J Am Acad Dermatol. Apr 2002;46(4):594-6. [Medline].

  6. Konig A, Happle R, Bornholdt D, Engel H, Grzeschik KH. Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. Am J Med Genet. Feb 14 2000;90(4):339-46. [Medline].

  7. Bornholdt D, Konig A, Happle R, et al. Mutational spectrum of NSDHL in CHILD syndrome. J Med Genet. Feb 2005;42(2):e17. [Medline].

  8. Happle R, Konig A, Grzeschik KH. Behold the CHILD, it's only one: CHILD syndrome is not caused by deficiency of 3 beta-hydroxysteroid-Delta 8, Delta 7-isomerase. Am J Med Genet. Oct 2 2000;94(4):341-3. [Medline].

  9. Kim CA, Konig A, Bertola DR, et al. CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene. Dermatology. 2005;211(2):155-8. [Medline].

  10. Happle R, Effendy I, Megahed M, Orlow SJ, Küster W. CHILD syndrome in a boy. Am J Med Genet. Mar 15 1996;62(2):192-4. [Medline].

  11. Kaminska-Winciorek G, Brzezinska-Wcislo L, Jezela-Stanek A, Krajewska-Walasek M, Cunningham D, Herman GE. CHILD syndrome: clinical picture and diagnostic procedures. J Eur Acad Dermatol Venereol. May 2007;21(5):715-6. [Medline].

  12. Bittar M, Happle R, Grzeschik KH, et al. CHILD syndrome in 3 generations: the importance of mild or minimal skin lesions. Arch Dermatol. Mar 2006;142(3):348-51. [Medline].

  13. Happle R. The lines of Blaschko: a developmental pattern visualizing functional X-chromosome mosaicism. Curr Probl Dermatol. 1987;17:5-18. [Medline].

  14. Fink-Puches R, Soyer HP, Pierer G, Kerl H, Happle R. Systematized inflammatory epidermal nevus with symmetrical involvement: an unusual case of CHILD syndrome?. J Am Acad Dermatol. May 1997;36(5 Pt 2):823-6. [Medline].

  15. Happle R. Ptychotropism as a cutaneous feature of the CHILD syndrome. J Am Acad Dermatol. Oct 1990;23(4 Pt 1):763-6. [Medline].

  16. Happle R. X-linked dominant chondrodysplasia punctata. Review of literature and report of a case. Hum Genet. 1979;53(1):65-73. [Medline].

  17. Altman J, Mehregan AH. Inflammatory linear verrucose epidermal nevus. Arch Dermatol. Oct 1971;104(4):385-9. [Medline].

  18. Golitz LE, Weston WL. Inflammatory linear verrucous epidermal nevus. Association with epidermal nevus syndrome. Arch Dermatol. Oct 1979;115(10):1208-9. [Medline].

  19. Happle R. Child naevus is not ILVEN. J Med Genet. Mar 1991;28(3):214. [Medline].

  20. Tadini G, Restano L, Gonzales-Perez R, et al. Phacomatosis pigmentokeratotica: report of new cases and further delineation of the syndrome. Arch Dermatol. Mar 1998;134(3):333-7. [Medline].

  21. Barr RJ, Plank CJ. Verruciform xanthoma of the skin. J Cutan Pathol. Dec 1980;7(6):422-8. [Medline].

  22. Dale BA, Kimball JR, Fleckman P, Herbert AA, Holbrook KA. CHILD syndrome: lack of expression of epidermal differentiation markers in lesional ichthyotic skin. J Invest Dermatol. Apr 1992;98(4):442-9. [Medline].

  23. Emami S, Rizzo WB, Hanley KP, Taylor JM, Goldyne ME, Williams ML. Peroxisomal abnormality in fibroblasts from involved skin of CHILD syndrome. Case study and review of peroxisomal disorders in relation to skin disease. Arch Dermatol. Sep 1992;128(9):1213-22. [Medline].

  24. Goldyne ME, Williams ML. CHILD syndrome. Phenotypic dichotomy in eicosanoid metabolism and proliferative rates among cultured dermal fibroblasts. J Clin Invest. Jul 1989;84(1):357-60. [Medline].

  25. Hebert AA, Esterly NB, Holbrook KA, Hall JC. The CHILD syndrome. Histologic and ultrastructural studies. Arch Dermatol. Apr 1987;123(4):503-9. [Medline].

  26. Cullen SI, Harris DE, Carter CH, Reed WB. Congenital unilateral ichthyosiform erythroderma. Arch Dermatol. Jun 1969;99(6):724-9. [Medline].

  27. Diczfalusy U, Alexson SE. Peroxisomal chain-shortening of prostaglandin F2 alpha. J Lipid Res. Dec 1988;29(12):1629-36. [Medline].

  28. Enjolras O, Guerin D, Hewitt J. [Knowledge of Solomon's epidermal nevus syndrome (author's transl)]. Ann Dermatol Venereol. Sep 1979;106(8-9):673-80. [Medline].

  29. Happle R, Mittag H, Küster W. The CHILD nevus: a distinct skin disorder. Dermatology. 1995;191(3):210-6. [Medline].

  30. Rossman RE, Shapiro EM, Freeman RG. Unilateral ichthyosiform erythroderma. Arch Dermatol. Nov 1963;88:567-71. [Medline].

  31. Solomon LM, Fretzin DF, Dewald RL. The epidermal nevus syndrome. Arch Dermatol. Mar 1968;97(3):273-85. [Medline].

[ CLOSE WINDOW ]

Further Reading

[ CLOSE WINDOW ]

Keywords

CHILD syndrome, congenital hemidysplasia, ichthyosiform nevus, limb defects, unilateral ichthyosiform erythroderma, unilateral erythrokeratoderma, unilateral epidermal nevus, unilateral ectromelia, inflammatory variable epidermal nevus, unilateral limb and skin deformities with congenital heart disease, CHILD nevus, congenital hemidysplasia with ichthyosiform erythroderma and limb defects

[ CLOSE WINDOW ]

Contributor Information and Disclosures

Author

Neil Alan Fenske, MD, Chairman, Department of Dermatology and Cutaneous Surgery, Professor, Department of Dermatology and Cutaneous Surgery, Department of Pathology and Cell Biology, Department of Oncologic Sciences, University of South Florida College of Medicine
Disclosure: Dermik Honoraria Speaking and teaching; Amgen Honoraria Speaking and teaching; Graceway Pharmaceuticals Honoraria Speaking and teaching; Abbott Honoraria Speaking and teaching; Warner Chilcott Honoraria Speaking and teaching

Coauthor(s)

Elizabeth Arrington, MD, Resident Physician, Department of Dermatology, University of South Florida
Elizabeth Arrington, MD is a member of the following medical societies: Alpha Omega Alpha
Disclosure: Nothing to disclose.

Babak Roshdieh, MD, Consulting Staff, Department of Dermatology, Sierra View District Hospital
Disclosure: Nothing to disclose.

Richard (Rick) L Moore, MD, Staff Physician, Department of Dermatology and Cutaneous Surgery, University of South Florida
Richard (Rick) L Moore, MD is a member of the following medical societies: American Academy of Dermatology and American Medical Association
Disclosure: Nothing to disclose.

Medical Editor

Abdul-Ghani Kibbi, MD, Chairman and Professor, Department of Dermatology, American University of Beirut Medical Center, Lebanon
Disclosure: none None None

Pharmacy Editor

Richard P Vinson, MD, Assistant Clinical Professor, Department of Dermatology, Texas Tech University School of Medicine; Consulting Staff, Mountain View Dermatology, PA
Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Association of Military Dermatologists, Texas Dermatological Society, and Texas Medical Association
Disclosure: Nothing to disclose.

Managing Editor

Van Perry, MD, Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas Health Science Center
Van Perry, MD is a member of the following medical societies: American Academy of Dermatology and American Society for Laser Medicine and Surgery
Disclosure: Nothing to disclose.

CME Editor

Catherine Quirk, MD, Clinical Assistant Professor, Department of Dermatology, Brown University
Catherine 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, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
HONcode

We subscribe to the
HONcode principles of the
Health On the Net Foundation

All material on this website is protected by copyright, Copyright© 1994- by Medscape.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.