Hypohidrotic ectodermal dysplasia - Diagnostic aids ...

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Hypohidrotic ectodermal dysplasia - Diagnostic aids and a report of 5 cases Ramesh K1, Vinola D2, John B John3

Abstract Hypohidrotic ectodermal dysplasia (HED) is a rare group of disorders affecting the hair, teeth, nails and sweat glands to a variable degree. There is a wide range of clinical presentation of HED. Missing teeth or abnormal tooth form may be the first indicator of the disorder. We present a case report of 5 cases of HED with their intraoral findings and their treatment plan. We also consider the various etiological factors and their clinical diagnostic aids.

Correspondence: Dr. Ramesh K, Department of Pedodontics and Preventive Dentistry, VMS Dental College, NH47, Sankari Main Road, Ariyanoor, Salem - 636 308, India. E-mail: [email protected]

Discussion

Key words Blaschko lines, hypohydrotic ectodermal dysplasia, sweat pore counts DOI: 4103/0970-4388.60474

1 Professor, 2Senior Lecturer, 3Former Professor and HOD, Department of Pedodontics and Preventive Dentistry, VMSDC, Salem, Tamilnadu, India

PMID: ***

Introduction Ectodermal dysplasias (EDs) are a large group of syndromes that are heterogenous under clinical and genetic aspects, and are characterized by anomalies in the structures of ectodermal origin. They can be manifested in problems relating to hair, nails, teeth, sweat and sebaceous glands, epithelium, conjunctiva, nervous system etc. Incidence of EDs is estimated to be 7 in 10,000 live births.[1] More than 192 distinct disorders have been described. The most common EDs are X-linked recessive hypohidrotic and hidrotic.[2] The disorder is determined by the X-linked recessive gene, so the disease is more observed in males than females.[3]

Case Report A total of 5 cases of patients who reported to the Department of Pedodontics with features of scanty hair, scaly skin, frontal bossing, anodontia/oligodontia were diagnosed as hypohidrotic ectodermal dysplasia [Table 1].

History Thurman (1848) first reported 2 male first cousins and their maternal grandmother with a hereditary syndrome associated with sparse hair, missing teeth and dry skin. HED was the condition affecting the “toothless men of Sind,” members of a Hindu family residing in the vicinity of Hyderabad, as described by Darwin (1875) and Thadani (1934). Graves (1963) reported a highly literate account of the large southern Mississippi group affected with this disorder. This was also described in the Work Projects Administration WPA guide, 1938, wherein these individuals were referred to as “Whitaker Negroes.”[4]

Pathophysiology Ectodermal dysplasia results from the abnormal morphogenesis of cutaneous or oral embryonal ectoderm, with reduction in the number of hair follicles and with hair shaft abnormalities. Eccrine defects: Eccrine sweat glands may be absent or sparse and rudimentary. Dental defects: Abnormal morphogenesis or absence of teeth. Nail dystrophy: Abnormal nail plate with brittle, thin ridged or grossly deformed nails.[2]

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Ramesh, et al.: Hypohidrotic ectodermal dysplasia 5 cases

Table 1: 5 case reports of hypohidrotic ectodermal dysplasia Case

Intraoral examination

Radiographic examination

Treatment plan

Figures 1: (A)-1 (F)

Age/Sex General examination 9/M

Scanty hair, frontal bossing, scaly skin, scanty eyebrows

Upper and lower edentulous ridges

No teeth present

Rehabilitation with complete denture

Figures 2: (A)-2 (F)

12/M

Scanty hair, frontal bossing, scaly skin

Lower edentulous ridge, conical 16, 51, 61, 26

Presence of 16,51,61,26

Rehabilitation with complete denture

Figures 3: (A)-3 (G)

7/F

Scaly skin, scanty eyebrows

Presence of 55, 53, 51, 61, Presence of 16,11,21,26,36. Missing Removable partial dentures, 63, 65, 46, 85, 83, 73, 75 54, 52, 62, 64, 84, 82, 81, 71, 72, 74 composite buildup in 51,61

Figures 4: (A)-4: (D)

7/M

Dry scaly skin, frontal bossing Conical 51, 61, 55, 54, 64, Anodontia of permanent dentition and scanty eyebrows 65, 85, 84, 74, 75

Rehabilitation with upper and lower removable partial dentures

Figures 5: (A)-5: (E)

4/F

Dry scaly skin, scanty hair, protuberant forehead

Patient on follow-up for treatment

55, 53, 51, 61, 63, 65, 75, 85

16, 11, 21, 26, 36, 46

Figure 1a: Facial view

Figure 1b: Profile view

Figure 1c: Lower edentulous arch

Figure 1d: Upper edentulous arch

Etiology

2. Autosomal dominant hypohidrotic ED is caused by mutations in the DL gene, which encodes the EDA (ectodysplasin) receptor.[6] 3. Autosomal recessive hypohidrotic ED may also result from mutations in the EDARADD gene, which encodes a protein that interacts with the EDA receptor.[6] 4. Hidrotic ED (Clouston syndrome), which is an autosomal dominant disorder, is caused by mutations in GJB6, which encodes connexin 30, a

1. X-linked recessive hypohidrotic ED (Christ-SiemensTouraine syndrome), or anhidrotic ectodermal dysplasia and immunodeficiency (EDA-ID), is caused by mutations in gene EDAEDA, which encodes the ectodysplasin protein, which in turn activates the NF-kappaB and essential modulator (NEMO), resulting in conical teeth, sparse hair, anhidrosis or hypohidrosis, and recurrent bacterial infections.[5] 48

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Ramesh, et al.: Hypohidrotic ectodermal dysplasia 5 cases

Figure 1e: Orthopantomographic view

Figure 1f: Rehabilitation with complete denture

Figure 2a: Facial view

Figure 2b: Protuberant lip

Figure 2c: Oligodontia

Figure 2d: Lower edentulous arch

component of intercellular gap junctions. 5. Hay-Wells syndrome (ankyloblepharon filiforme adnatum), Rapp-Hodgkin syndrome and EEC (Ectrodactly-ectodermal dysplasia) syndrome are all caused by mutations in the TP73L (p63) gene, featuring congenital abnormalities of skin, hair, teeth, nail,

eccrine and mucous glands, as well as cleft deformities. 6. The genetic defects underlying several other EDs are also known.[2] a. Palmoplantar keratoderma with deafness is caused by mutations in the GJB26 gene, which encodes connexin 26.

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Ramesh, et al.: Hypohidrotic ectodermal dysplasia 5 cases

Figure 2e: Orthopantomographic view

Figure 2f: Rehabilitation with complete denture

Figure 3a: Facial view

Figure 3b: Lower partial anodontia

Figure 3c: Upper partial anodontia

Figure 3d: Orthopantomographic view

b. Margarita Island ED is caused by mutations in the PVRL1 gene, which encodes nectin-1. c. ED with skin fragility is caused by mutations in the PKP1 gene, which encodes plakophilin 1. d. Hypotrichosis with juvenile macular dystrophy 50

is caused by mutations in the CDH3 gene, which encodes p-cadherin. e. ADULT syndrome is caused by mutations in the TP63 gene. f. Split hand-foot malformation syndrome is

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Ramesh, et al.: Hypohidrotic ectodermal dysplasia 5 cases

Figure 3e: Lower removable partial denture

Figure 3f: Upper removable partial denture

Figure 3g: Rehabilitation with removable partial dentures Figure 4a: Facial view

Figure 4b: Partial anodontia

caused by mutations in the TP63 gene. g. Limb-mammary syndrome is caused by mutations in the TP63 gene.

Radiographs Orthopantomogram at an early age is to be done to rule out hypodontia and dental abnormalities.[7]

Figure 4c: Orthopantomographic view

X-rays of the hand, feet show specific skeletal deformities. Renal ultrasonography, pilocarpine iontophoresis and skin biopsy may document hypohidrosis and a reduction in the number of eccrine glands.[2]

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Ramesh, et al.: Hypohidrotic ectodermal dysplasia 5 cases

Figure 4d: Rehabilitation with removable partial dentures

Figure 5a: Facial view

Figure 5b: Maxillary hypodontia

Figure 5c: Mandibular hypodontia

Figure 5d: Dry scaly skin Figure 5e: Orthopantomographic view

Other diagnostic tests Sweat pore count Sweat pore count is done using yellow starchiodine powder applied to palmar or dorsal skin. In unaffected persons, sweating turns the powder to deep purple, allowing visualization of sweat pores. Sweat

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pores are poorly visualized in affected children[8] [Figures 6a and 6b].

Blaschko lines Streaky areas of hypohidrosis that follow Blaschko

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Figure 6a: Starch Iodine test

Figure 6b: Starch Iodine test positive

Figure 7a: Blaschko lines prominent

Figure 7b: Blaschko lines

lines[9] are observed upon starch-iodine staining, which demonstrates a mosaic pattern of areas of normal numbers of sweat pores alternating with areas of absent pores [Figures 7a and 7b].

are few or poorly developed or are very rudimentary. Salivary glands may show ectasia of ducts and inflammatory changes.[3]

Skin biopsy Hypothenar eminence is the most reliable biopsy site to demonstrate an absence or hypoplasia of sweat glands.[2]

Prenatal diagnosis Fetal skin biopsy helps in the diagnosis of prenatal ED. Chorionic villus sampling at the 10th week of gestation can be done for some EDs.[2]

Histologic findings Skin histopathology documents a reduction in the number of sweat glands, hair follicles and sebaceous glands associated with the different EDs. In EDA, the epidermis is thin and flattened. Eccrine sweat glands

Conclusion Ectodermal dysplasia is a genetic disorder affecting the ectodermal structures, typically involving hair, nail, skin, sweat glands and dental anomalies such as hypodontia or microdontia. Clinicians should consider ED as a differential diagnosis in patients having anomalies of tooth form, structure or number. Various diagnostic tests mentioned above can aid in the confirmation of the diagnosis. Although restorative management may be challenging, the importance of basic prevention should be stressed.

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NEMO pathway. J Am Acad Deramatol 2008;58:316-20. Bal E, Baala L, Cluzeau C, El Kerch F, Ouldim K, HadjRabia S, et al. Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus. Hum Mutat 2007;28: 703-9. Ryan FS, Mason C, Harper JI. Ectodermal dysplasia-an unusual dental presentation. J Cl Pediatr Dent 2005;30:55-8. Rouse C, Siegfried E, Breer W, Nahass G. Hair and Sweat Glands in Families with Hypohidrotic Ectodermal Dysplasia. Further Characterization. Arch Dermatol 2004;140:850-5. Cambiaghi S, Restano L, Pääkkönen K, Caputo R, Kere J. Clinical findings in mosaic carriers of hypohydrotic ectodermal dysplasia. Arch Dermatol 2000;136:217-24. Source of Support: Nil, Conflict of Interest: Nil

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