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Darier’s Disease In Pregnancy

Authors Information

Jagtap V*, Samant P **, Parulekar SV***.
(*Third Year Resident, **Additional Professor, ***Professor and Head, Department of Obstetrics and Gynecology, Seth G. S. Medical college and KEM hospital, Mumbai, India)

Abstract

Darier’s disease (keratosis follicularis or Darier’s White disease) is a rare autosomal dominant disease.[1] We report a case of a 22 year old primigravida woman with full term pregnancy and Darier’s disease since childhood.

Introduction

Darier’s disease is a rare autosomal condition with variable penetrance. Its incidence is about 1 case in 30000 with worldwide distribution. Males and females are equally affected. Its onset is usually in adolescence.[1] The disease occurs due to mutation of ATP2A2 gene located on chromosome 12q.[2] This gene codes for sarcoplasmic ER Ca2+ ATPase protein which is important for maintaining desmosomal protein attachments.[3] Though prenatal diagnosis is possible, prenatal counseling is difficult due to variable penetrance and inability to predict severity of disease in an individual.[4]

Case Report

A 22 year old primigravida was registered with us antenatally. She was a known case of Darier’s disease since childhood. She had warty papular lesion with hyperkeratosis all over the body sparing axilla, perineum, nails and mucosae. She was following up regularly with a dermatologist and was not on any medications. The disease had no progression or regression during this pregnancy. Her medical and surgical history was not contributory. There was no family history of this illness. Her general and systemic examination revealed no abnormality. There was a single fetus in vertex presentation, whose growth was appropriate. Her biochemical, serological  and hematological tests showed normal results. Obstetric ultrasonography showed no abnormality. She did not go into spontaneous labor until 41 weeks. A nonstress test was reactive. Labor was induced. She developed intrapartum fetal distress, for which a cesarean section was done under spinal anesthesia. The newborn was normal. She made an uneventful recovery. Suture removal was done on postoperative day 14. The wound healed well. Thus our patient had a normal outcome. Follow up examination after 2 weeks and 3 months showed no change in the lesions. The lactation was successful.


Figure 1. Lesions on the lower back.


Figure 2. Lesions on the chest.


Figure 3. Lesions on the back.


Figure 4. Appearance of the healed wound of cesarean section.

Discussion

Darier’s disease is a rare condition affecting skin, nails and mucous membranes characterized by hyperkeratotic, greasy, warty papules/plaques on seborrhoeic areas of trunk and face and limbs. Crusted lesions may lead to painful fissuring. Nails and mucous membranes may also be involved.[5] Differential diagnosis includes acrokeratosis verruciformis, familial benign pemphigus (Hailey-Hailey Disease), seborrheic dermatitis, and transient acantholytic dermatosis (Grover’s disease).
Definitive diagnosis requires a skin biopsy. A skin biopsy is diagnostic. It shows dyskeratosis and acantholysis and corps ronds and grains.[5] On electron microscopy there is a loss of desmosomal protein attachments.[5] About 50% of the cases may have mood disorders. Such cases are prone to develop postnatal depression.
Association of mental retardation, epilepsy and schizophrenia has been reported. 30% cases may have depression and some may also have suicidal tendencies.[6] Obstetric problems associated with this condition are traumatic vaginal birth due to inelasticity of skin leading to traumatic vaginal birth, difficulty in giving regional anesthesia, cesarean scar related complications, infective folliculitis (group B streptococcus or MRSA or secondary viral infections), and an inability to breast feed the baby due to lesions over breast with or without infection. Bacterial skin infection of the mother may lead to neonatal sepsis. There is up to 50% risk of the offspring being affected due to the autosomal dominant pattern of. inheritance means that 50% of offspring. A woman with mild disease can give birth to a baby with severe disease. The patient and her spouse need to be counseled about the risk and offered prenatal diagnosis. In our case it could not be done because the facilities were not available.[7] Mild cases may be treated with moisturizers and sunscreen lotion. Severe cases are treated with topical/oral retinoids which are contraindicated in pregnancy. Topical steroids show poor efficacy in treating these lesions. Fusidic acid and 5% potassium permanganate solution are used for topical application. Antibiotics are used for secondary bacterial infections and acyclovir in case of herpes simplex virus infection.  Dermabrasion, laser ablation or surgical excision of lesions may be done if required.
 
References
  1. Cooper SM and Burge SM. Darier’s disease: epidemiology, pathophysiology, and management. Am J Clin Dermatol. 2003; 4:97-105.
  2. Sakuntabhai A, Ruiz-Perez V, Carter S, Jacobsen N, Burge S, Monk S, et al. Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. Nat Genet. 1999 Mar;21(3):271-7.
  3. Celli A1, Mackenzie DS, Zhai Y, Tu CL, Bikle DD, Holleran WM, et al. SERCA2-controlled Ca²+-dependent keratinocyte adhesion and differentiation is mediated via the sphingolipid pathway: a therapeutic target for Darier's disease. J Invest Dermatol. 2012 Apr;132(4):1188-95.
  4. Munro CS. The phenotype of Darier's disease: Penetrance and expressivity in adults and children. Br J Dermatol 1992;127: 126-30.
  5. Parker DC, Morris RJ, Solomon AR. Nonneoplastic Diseases of the Skin. In Mills, SE, editor 5th Edition Sternberg's Diagnostic Surgical Pathology. 2010 Lippincott Williams & Wilkins. Pg 17.
  6. Jacobsen NJ, Lyons I, Hoogendoorn B, Burge S, Kwok PY, O'Donovan MC, et al. ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes. Hum Mol Genet. 1999 Sep. 8(9):1631-6.
  7. Shimizu H and Suzumori K. Prenatal diagnosis as a test for genodermatoses: its past, present and future. J Dermatol Sci. 1999; 19:1-8.
Citation

Jagtap V, Samant P, Parulekar SV. Darier’s Disease In Pregnancy. JPGO 2015. Volume 3 No. 1. Available from: http://www.jpgo.org/2016/01/dariers-disease-in-pregnancy.html