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Year : 2021  |  Volume : 22  |  Issue : 2  |  Page : 151-153

Ichthyosiform lesion at birth demystifying familial short stature

Department of Neonatology, JIPMER, Puducherry, India

Date of Submission04-Aug-2020
Date of Decision13-Aug-2020
Date of Acceptance01-Nov-2020
Date of Web Publication31-Mar-2021

Correspondence Address:
Chanchal Kumar
Department of Neonatology, JIPMER, Dhanvantari Nagar, Puducherry - 605 006
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijpd.IJPD_129_20

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Conradi-Hünermann syndrome is a rare genetic condition characterized by skeletal malformations, skin abnormalities, cataracts and short stature. We report a term female infant presenting with a diffuse ichthyosiform erythroderma at birth. Physical examination also showed sparse lusterless hair with cicatricial alopecia, dystrophic nails, facial dysmorphism, and flexion contracture of fingers. Radiological examination revealed a shortening of the right femur and humerus, vertebral defects, scoliosis, and epiphyseal stippling of long bones on the right side. The infant's sister and mother had short stature and bony joint swellings. A clinical diagnosis of X-linked Conradi–Hünermann syndrome was considered based on clinical suspicion and radiological survey. Dermatologists and pediatricians should consider this diagnosis in children with suggestive features.

Keywords: Chondrodysplasia, ichthyosiform, X-linked dominant

How to cite this article:
Kumar C, Sivanandan S, Plakkal N. Ichthyosiform lesion at birth demystifying familial short stature. Indian J Paediatr Dermatol 2021;22:151-3

How to cite this URL:
Kumar C, Sivanandan S, Plakkal N. Ichthyosiform lesion at birth demystifying familial short stature. Indian J Paediatr Dermatol [serial online] 2021 [cited 2021 Apr 18];22:151-3. Available from: https://www.ijpd.in/text.asp?2021/22/2/151/312827

  Introduction Top

Conradi–Hünermann syndrome is an X-linked dominant disorder characterized by skeletal malformations, ichthyosiform erythroderma, cataract, short stature, stippled epiphyses of long bone, and disproportionate and asymmetric shortening of long bones. This disease is usually lethal in males.[1] Increased plasma sterol level and emopamil-binding protein (EBP) mutation confirm the diagnosis.[2] We report a female infant with ichthyosiform erythroderma and asymmetric shortening of long bones at birth and undiagnosed short stature in mother and female sibling. A clinical diagnosis of Conradi–Hünermann syndrome was made based on clinical findings, radiological examination, and the inheritance pattern in a resource-limited setting.

  Case Report Top

A term female infant born to a nonconsanguineous couple with a birth weight of 2.9 kg was admitted to the neonatal intensive care unit for a diffuse skin rash noted at birth. The infant was born at 41-week gestation to a second gravida mother with uneventful antenatal history. The mother and her first daughter had short stature and bony joint swellings without any skin lesions or ocular defects.

On examination, the infant had abnormal thickening of the skin with dryness and dark adherent scales most evident on the right side of the body. The lesions were arranged in a linear and blotchy pattern that followed the  Lines of Blaschko More Details and were surrounded by erythema (ichthyosiform erythroderma) [Figure 1]. The neonate also had depressed nasal bridge, mid-facial hypoplasia, anteverted nostrils, a long philtrum with a thin upper lip, hoarse voice, flexion contracture of fingers, sparse lusterless hair with cicatricial alopecia [Figure 2], and dystrophic nails [Figure 3]. Ophthalmologic examination revealed no cataract and neurologic examination was normal. Two-dimensional echocardiography and renal ultrasound examination were normal. The right arm and thigh were shortened. X-rays revealed shortening of the right femur and humerus, defects in the bodies of thoracic vertebrae, scoliosis, and epiphyseal stippling of long bones on the right side [Figure 4].
Figure 1: Clinical profile showing ichthyosiform erythroderma and right proximal shortening

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Figure 2: Cicatricial alopecia

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Figure 3: Dystrophic nails

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Figure 4: Epiphyseal stippling, short humerus and femur on the right side, defect in thoracic vertebral bodies, rib cage abnormality, and scoliosis

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A clinical diagnosis of Conradi–Hünermann syndrome was considered based on the clinical and radiological findings and possible X-linked dominant inheritance. Analysis of sterols by gas chromatography–mass spectrometry and genetic analysis for the EBP mutation were not done. The infant was initiated on emollient application and genetic counseling for the family was done.

  Discussion Top

Chondrodysplasia punctata (CDP) is characterized by ectopic and punctate calcifications of developing epiphyses. It is seen in a heterogeneous group of conditions including rhizomelic CDP, X-linked recessive CDP, Conradi–Hünermann syndrome, trisomy 21 and 18, congenital hypothyroidism, and warfarin embryopathy.[1] In the index case, a diagnosis of X-linked Conradi–Hünermann syndrome was considered based on ichthyosiform erythroderma, inheritance pattern, and CDP. The condition is caused by mutations in the EBP gene involved in cholesterol biosynthesis.[2] Affected females have elevated serum levels of sterols.[3] Biochemical analysis or mutation studies could not be done in this case. Clinical presentation can vary from a lethal form in hemizygous males to milder forms with short stature and dysmorphism.[4] Skin lesions and punctate calcifications usually resolve, a cataract may manifest later, while bony deformities and short stature persist.[5] Management includes orthopedic surgeries, cataract removal, emollient application, and genetic counseling of the family.

  Conclusion Top

Conradi–Hünermann syndrome is a rare genetic disorder involving the skin, eye, and bone. A clinical diagnosis can be made based on clinical profile, radiological evaluation, and family history suggestive of X-linked dominant pattern.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient's parents have given their consent for images and other clinical information to be reported in the journal. The patient's parents understand that name and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Kolb-Mäurer A, Grzeschik KH, Haas D, Bröcker EB, Hamm H. Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis. Acta Derm Venereol 2008;88:47-51.  Back to cited text no. 1
Has C, Bruckner-Tuderman L, Müller D, Floeth M, Folkers E, Donnai D, et al. The Conradi-Hünermann-Happle syndrome (CDPX2) and emopamil binding protein: Novel mutations, and somatic and gonadal mosaicism. Hum Mol Genet 2000;9:1951-5.  Back to cited text no. 2
Has C, Seedorf U, Kannenberg F, Bruckner-Tuderman L, Folkers E, Fölster-Holst R, et al. Gas chromatography-mass spectrometry and molecular genetic studies in families with the Conradi-Hünermann-Happle syndrome. J Invest Dermatol 2002;118:851-8.  Back to cited text no. 3
Hoang MP, Carder KR, Pandya AG, Bennett MJ. Ichthyosis and keratotic follicular plugs containing dystrophic calcification ill newborns: Distinctive histopathologic features of X-linked dominant chondrodysplasia punctala (Conradi-Hunermann-Happle syndrome). Am J Dermatopathol 2004;26:53-8.  Back to cited text no. 4
Braverman N. Conradi-Hünermann Syndrome. NORD Guide to Rare Disorders. Philadelphia, PA: Lippincott Williams & Wilkins; 2003. p. 173.  Back to cited text no. 5


  [Figure 1], [Figure 2], [Figure 3], [Figure 4]


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