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Year : 2019  |  Volume : 20  |  Issue : 3  |  Page : 219-226

Dermoscopy of congenital dermatoses in pediatric age group: An observational study

1 Department of Dermatology, Government Medical College, Bhavnagar, Gujarat, India
2 Department of Pediatrics, Government Medical College, Bhavnagar, Gujarat, India

Date of Web Publication28-Jun-2019

Correspondence Address:
Dr. Hita Hemant Mehta
115, Skin OPD, First Floor, New Building, Sir T Hospital, Near Jail Road, Bhavnagar, Gujarat
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijpd.IJPD_130_18

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Objective: To study dermoscopic (DS) patterns of various congenital dermatologic conditions affecting pediatric age group. Background: DS helps to fill gap between histopathology and gross examination, especially in children as they are noncooperative for invasive procedure. It also helps in early detection of malignant change. Methodology: One hundred and forty-nine children with congenital dermatoses were enrolled in a study conducted from August 2017 to January 2018 in dermatology outpatient department (OPD). After proper history and examination, DS images were captured using DermLite DL IV and stored for analysis. Results: One hundred and forty-nine DS images of 22 congenital dermatoses were studied including 80 males and 69 females. Homogenous pattern (80%) was the most common pattern observed in melanocytic nevi (26). Mongolian spots (25) had greenish hue (100%) on DS. Hemangioma (13) and port wine stains (5) showed cherry red vacuoles and red dots against a pink background, respectively. Criss-cross, rhomboid, and lamellate pattern of scales were observed in DS of congenital ichthyosis (8). We also analyzed DS features of bullous and perforating disorders, syndromes, few rare miscellaneous conditions, and hair disorders. Conclusions: DS is a non-invasive diagnostic tool which enables visualization of deeper structures of the skin which are not seen with naked eyes. Melanocytic nevus, if disorganized, indicates increased risk for melanoma in situ. Pattern of scales on DS helps to classify ichthyosis. Regular brown dots suggest wart-like infection in epidermodysplasia verruciformis. DS of monilethrix and short anagen syndrome helps in differentiating from other hairs shaft disorders. Although time consuming, DS is easy to perform, especially in children and it aids to confirm the diagnosis.

Keywords: Congenital dermatoses, dermoscopy, melanocytic nevi

How to cite this article:
Gajjar PC, Mehta HH, Gosai M. Dermoscopy of congenital dermatoses in pediatric age group: An observational study. Indian J Paediatr Dermatol 2019;20:219-26

How to cite this URL:
Gajjar PC, Mehta HH, Gosai M. Dermoscopy of congenital dermatoses in pediatric age group: An observational study. Indian J Paediatr Dermatol [serial online] 2019 [cited 2022 Jun 29];20:219-26. Available from: https://www.ijpd.in/text.asp?2019/20/3/219/261870

  Introduction Top

A large proportion of patients attending the dermatology outpatient department (OPD) belong to the pediatric age group. Congenital conditions include any abnormal structure or deformity present at birth. Inherited dermatoses include diseases associated with transmission of genetic variants from one generation to another. They can either be present at birth or may manifest later in life.[1]

Dermoscopy (DS) is an ex vivo noninvasive technique for analyzing subsurface skin structures which helps in confirming the diagnosis and identifying early changes of cutaneous malignancy.[2]

Although there are many studies describing clinical and genetic basis of congenital and inherited skin conditions in pediatric age group, very scarce literature is available on DS of genodermatoses. Hence, the objective of our study is to determine the DS features of various congenital and inherited skin abnormalities in pediatric age group which will help to avoid invasive diagnostic procedures.

  Methodology Top

A total of 149 children were enrolled in a cross-sectional observational study conducted at outpatient clinic of dermatology in Government Medical College (GMC), Sir T. Hospital, Bhavnagar, after approval from human ethics and institutional review, GMC Bhavnagar. Pediatric patients up to 14 years of age attending dermatology OPD with congenital or inherited conditions of skin and hair were enrolled consecutively between August 2017 and January 2018 after written informed consent from the guardian. Detailed history including age of onset of lesions, duration, birth, development, vaccination, drug, and family history were elicited. Thorough dermatological and systemic examinations were carried out. Appropriate investigations were carried out wherever required. All patients diagnosed with a skin condition known to be associated with a multisystem disorder or a syndrome were referred to the pediatric and other respective OPDs. Gross photographs were captured using Canon HD digital single lens reflex camera while DS pictures was captured using DermLite DL IV dermoscope and its images were stored in iPhone 6s using an adaptor attached to the phone. Photographs were stored and DS pictures were evaluated for pigmentary, vascular, as well as other special features. We divided the congenital dermatoses into various groups. Data was expressed in frequency and percentage.

  Results Top

A total of 149 children including 80 males and 69 females residing in Bhavnagar district were enrolled in the study. We included 22 congenital diseases including those occurring during birth or within 2 years of life [Table 1]. We analyzed the enrolled cases and grouped them into conditions such as congenital nevus, pigmentary conditions, vascular disorders, disorders of cornification, perforating disorders, blistering disorders, various syndromes, rare miscellaneous cases, and hair disorders [Table 1].
Table 1: Distribution of cases

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We came across clusters of familial cases in a few conditions which are mentioned in [Table 2].
Table 2: Dermoscopic characteristics of melanocytic nevi

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In congenital melanocytic nevus (CMN) (26), we observed 100% organized symmetric pattern with 65% (17) light brown-colored, 34% (10) dark brown-colored, and 12% (3) black-colored nevi. DS details are described in [Table 3] and [Figure 1].
Table 3: Dermatoses with positive family history

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Figure 1: Congenital melanocytic nevi. (a) Globular pattern. (b) Reticulate pattern. (c) Black homogenous pattern with white scales and fissures. (d) Giant black hairy nevus

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DS findings of verrucous epidermal nevus showed confluent brown structures (60%) with white scales all over. Out of three, one interesting case showed unilateral and whorled pattern of nevus on trunk and extremities. DS of one of the lesions of that patient showed gray knob-like structure resembling filiform warts but lacking brownish gray dots [Figure 2]. Three cases of halo nevus showed central homogenous dark brown or bluish structure surrounded by a depigmented rim (100%) [Figure 2].
Figure 2: Congenital nevi. (a) Linear verrucous epidermal nevus. Above-gray and black knob-like structures (black circles). Below-multiple confluent brown structures with dark brown globules. (b) Nevus hypopigmentosus. Well-defined hypopigmented patch with small white dots in the periphery (representing sweat duct opening). (c) Halo/Sutton's nevus. Central globular pattern melanocytic nevus with surrounding white rim. (d) Nevus depigmentosus. Well defined white patch with amoeboid/pseudopodia-like projections (black circle) and in between retained pigmentary network (arrow)

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Well-defined hypopigmented patch (100%) was illustrated in nevus hypopigmentosus (10). Pseudopod-like structure with retained pigmentation was observed in 75% cases of nevus depigmentosus (ND) [Figure 2].

We observed 3–4 brown dots on light brown well-defined patch in a single case of nevus spilus.

Congenital pigmentary conditions

All the cases of Mongolian spots (25) exhibited ill-defined grayish green patch. The most common site was lumbosacral area (80%) [Figure 3].
Figure 3: Dermoscopy of pigmentary and vascular lesions. (a) Mongolian spot. Ill-defined greyish green patch (100%). (b) Café au lait macule. Ill-defined brownish patch (100%) with tiny white dots (representing sweat duct openings). (c) Lymphangioma circumscriptum. Grouped red and black lacunae with pinkish-white septa around. (resembling bunch of grapes). Hypopyon sign lacunae with half black and half red (arrow). (d) Port wine stain. Branched tortuous red lines (arrows) 100% and red dots (circle) 40%

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Cafe au lait macules (21) showed light brown ill-defined areas (100%) on DS. A single case among them was associated with neurofibromatosis [Figure 3].

Congenital vascular malformation

Among congenital vascular malformations, we included infantile hemangiomas (13) and port wine stains (5). Classic cherry red lacunae against pinkish background (100%) were noted in lesions of hemangioma, whereas lesions of port wine stain exhibited tortuous and branched red lines (100%) and dots (40%) under DS [Figure 3] and [Figure 4].
Figure 4: Various dermoscopic patterns of infantile hemangioma. (a) Cherry red lacunae (arrow) 100%. (b) Cerebriform appearance with fissures (arrow) and ridges. (c) Nodular hemangioma with pinkish white reticulate structure and milia-like cyst (arrow) (69%). (d) Pink and white structure-less areas (77%) with tortuous red lines (arrow) 38%

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Lymphangioma circumscriptum (2) lesions exhibited brown/red/black lacunae surrounded by white septa (100%). Hypopyon-like lacunae with red and black halves were observed in one lesion [Figure 3].

Disorders of cornification

DS features as well as clinical findings of congenital ichthyosis are summarized in [Figure 5].
Figure 5: (a-c) Disorders of cornification. (d) Reactive perforating collagenosis. (a) Ichthyosis vulgaris (3). Criss-cross pattern of fine white scale (100%). (b) X-linked recessive ichthyosis (3) Rhomboid/mosaic pattern of brown structures with space in between (100%) (star). (c) Lamellar ichthyosis (2) Quadrilateral brownish structures with fine white scale around arranged in lamellar pattern (100%). (d) “Three zones”. Central brownish white crust surrounded by white radiating structure (triangle) and lastly by violaceous rim (star). Fine white scale present in circular pattern outside

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Perforating disorders

We came across five cases of reactive perforating collagenoses (RPCs) and observed the classic three zones under DS [Figure 5].

Inherited blistering disorders

Two cases of epidermolysis bullosa simplex (EBS) and two familial cases of epidermolysis bullosa dystrophica (EBD) were enrolled. Clinically, both the cases of EBD showed contractures of feet, nail dystrophy, and anychia. DS features are illustrated in [Figure 6].
Figure 6: Genetic blistering disorders. (a) Epidermolysis bullosa simplex. Reddish brown structures in center with fine white scales surrounded by pinkish white areas. (b) Epidermolysis bullosa dystrophica. Reddish and dark brown structures in center with moderate white scaling against pink background. (c) Contracture on arm in epidermolysis bullosa dystrophica. Thick yellowish white scales with pink background

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Miscellaneous cases

In tuberous sclerosis complex (TSC) (5), DS of such as shagreen patch and adenoma sebaceum revealed yellowish globules of different sizes against a brown background (100%). However, DS of ash leaf macule showed well-defined white structure [Figure 7].
Figure 7: Miscellaneous conditions 1. Tuberous sclerosis complex. (a) Adenoma sebaceum. Multiple yellowish white globules of varying length on brownish background. (b) Ash leaf macules. White patch with irregular feathery border

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DS of dry facial lesions in a patient of hypohidrotic ectodermal dysplasia revealed parallel pattern of thin white scales and trichoscopy of scalp showed sparse hair with all follicular units with single hair and brown scales in the interfollicular region. Interestingly, sebaceous hyperplasia around the nipple was an incidental finding in another child [Figure 8].
Figure 8: Dermoscopy of miscellaneous conditions 2. (a,b) Hypohidrotic and (c,d) hidrotic ectodermal dysplasia. (a) Dermoscopy of facial skin. Parallel pattern of fine white scales. (b) Ds if scalp-Follicular units with single hair with brown scales in interfollicular areas. (c) Ds of focal palmar keratoderma. Yellowish-white concentric rings. (d) Dermoscopy of warty lesions on upper lips. Dirty brown finger-like projections

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Familial cases of hidrotic ectodermal dysplasia, also known as Clouston syndrome, presented with classic triad of transgradient focal palmoplantar keratoderma, rough nail plates, and hypotrichosis. DS of dirty warty brown lesions on the face showed grayish black finger-like structure and oval structure. Brownish white rings against a brown background were observed in DS of plantar keratoderma [Figure 8].

In a single case of epidermodysplasia verruciformis (EV), DS of wart-like lesions on body revealed multiple brown dots against a pink background while DS of pityriasis versicolor-like lesions on back demonstrated pink structures with peripheral white scales [Figure 9].
Figure 9: Dermoscopy of miscellaneous conditions 3. (a,b) Epidermodysplasia verruciformis. (a) Dermoscopy from wart-like lesion on dorsum of hand-multiple brown dots (circle) against pinkish background. (b) Dermoscopy of pityriasis versicolor-like lesions on back – fine white reticular scales against pink background. (c) Aplasia cutis. Central white oval structure surrounded by branch red lines (arrow) and rim of hair (arrow head). (d) Albinism. Diffuse white areas with leukotrichia (arrow)

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We came across a single case of aplasia cutis on scalp exhibiting central well-defined white-fissured shiny structure with branched tortuous red lines in the periphery. Circular rim of black hair tufts surrounded the entire structure [Figure 9].

A single case of albinism demonstrated diffuse white patch on DS [Figure 9].

Hair disorders

We came across familial cases of short anagen syndrome as well as monilethrix (two cases each) with the former showing multiple tipped points and the latter demonstrating multiple regular beaded hair bent in various directions on DS [Figure 10].
Figure 10: Dermoscopy of hair disorders. (a and b) Short anagen syndrome. (c and d) Monilethrix. (a) Dermoscopy. Follicular units with single hairs with tipped points (circle). (b) Optical microscopy after pull test shows telogen hairs. (c) “Regularly beaded ribbon” and “regularly bent ribbon” sign. Follicular units with single beaded hairs bent in different directions. (d) Optical microscopy. Fusiform beads at equidistance and constrictions in between

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  Discussion Top

A total of 22 congenital dermatoses were studied including both common and rare disorders. DS aids in early diagnosis, differentiation, prognosis, and management of congenital dermatoses. DS provides a vertical view while histopathology provides a horizontal view of the tissue section. Performing biopsy for histo-pathological examination is a tough task in pediatric age group. Hence, DS bridges the gap between clinical examination and histopathology, thus making our practice easy.[2]

Similar to a study conducted in Brazil, the most frequently observed congenital dermatoses in our study was CMN (17.4%) followed by Mongolian spots (16.7%) [Table 1].[3]

Congenital nevi are benign proliferation of melanocytes in the dermis, epidermis, or both either present at birth or appear within the first 2 years of life. In our study, homogenous pattern was the commonest (80%) followed by globular pattern (46%) unlike the findings of Seidenari et al. who found globular pattern to be more prevalent.[4] Giant CMNs carry the risk for the development of melanomas.[5],[6] However, DS is a sensitive tool to detect even micro melanomas in small melanocytic nevus <3 mm.[7] Saida et al. stated that observation of parallel ridge pattern of pigmentation under DS of acral nevi raises a strong suspicion for melanoma in situ.[8] DS identification of normal benign patterns prevents unnecessary excision of suspected pigmentary lesion.[9]

Kolm et al. demonstrated similar DS features of halo nevus like our study.[10]

White-colored skin lesion is a taboo in our society. Hence, it is very essential to differentiate vitiliginous patch from ND. Besides clinical history, DS helps to confirm ND by the presence of pseudopod-like structures and retention of pigmentary pattern which is absent in vitiligo.[11]

Mongolian spot represents the abnormal melanocyte migration from neural crest to the dermis which reflects grayish green hue on DS. It usually fades in 2–3 years.[12]

DS helps to classify infantile hemangiomas as superficial and mixed. Superficial lesions show polymorphous reddish pink vascular structure without red lines while mixed hemangiomas (superficial + deep) exhibit red tortuous lines along with polymorphous red structure.[13] We observed such tortuous red lines in 38%[5] cases. One large cerebriform-like hemangioma showed fissures and ridges in DS [Figure 4].

Tortuous red lines in the DS of port wine stain are suggestive of deep, subpapillary, and horizontally arranged dilated vessels, whereas red dots or globules seen on DS represent the more superficial vertically oriented vessels. Hence, port wine stains with red dots respond well to laser treatment.[14]

Gencoglan et al. have mentioned about the hypopyon lacunae with surrounding septa in lymphangioma circumscriptum. Hypopyon formation can be attributed to the red corpuscles settling down due to gravity and lymph floating over it in the upper half.[15]

Classic DS finding of ichthyosis is hyperkeratosis and widened intercellular space which was observed in our study.[16] Scaling pattern observed clinically as well as dermoscopically helps in differentiating disorders of cornification like ichthyosis. Criss-cross, rhomboid, and lamellar pattern of scales are observed in ichthyosis vulgaris, X-linked recessive ichthyosis, and lamellar ichthyosis, respectively [Figure 5].

Similar to our findings in adenoma sebaceum of TSC, Behera et al. in their study observed multiple yellow dots against a pinkish gray background. Here, yellow dots correspond to follicular hyperkeratosis and sebum whereas pinkish gray background corresponds to proliferating blood vessels and melanin incontinence.[17] Shinkuma et al. observed reddish-brown strands with white lines in between in shagreen patch which we did not find in our patient.[18]

Classic “three-zone phenomena” was demonstrated in the DS of congenital perforating disorders such as RPC as stated by Ankad et al. Here, central yellow structure corresponds to crusting or protruded material, white rim represents epidermal invagination while surrounding erythema corresponds to inflammation around the invagination histopathologically.[19] In one of our patients, we confirmed an unusual hyperkeratotic papule in postauricular region as RPC with the aid of classic DS clue of “three-zone.”

EBS is characterized by defective formation of intermediate filaments resulting in fragile skin while epidermolysis dystrophica (ED) is characterized by sublaminal split with resultant scarring, nail changes, and contractures.[20],[21] DS shows fresh erosions of EBS as red areas while scarred areas of ED show brown structures with scaling [Figure 6].

Ectodermal dysplasias area large group of genodermatoses characterized by the dysplasia in two or more ectodermal structures such as teeth, hair, nails, and sweat glands.[22] DS of the scalp hair in hypohidrotic ED is characterized by presence of hypotrichosis with all the hairs originating from single follicular units and fine brown crust in interfollicular region, suggesting underlying scalp dermatitis. We did not observe other hair shaft abnormalities such as trichorrhexis nodosa, pilli torti, and pilli canaliculi as mentioned in the literature.[23]

“Hair collar sign” in DS of aplasia cutis characterized by the presence of ring of hypertrichosis around white structure was described by Damiani et al.[24]

The presence of brown dots in wart-like lesions of EV suggests persistent human papillomavirus infection.[25]

Among hair abnormalities, tipped points in the DS of short anagen syndrome indicates untrimmed hairs since birth.[26] Minoxidil showed mild improvement clinically as well as dermoscopically in one of our patients as it prolongs the anagen phase.[27]

Pathognomic “regularly beaded ribbon” and “regularly bent ribbon” sign demonstrated in DS of monilethrix enables the dermatologist to rapidly short anagen syndrome hair shaft disorders [Figure 10]. It also obviates the need for a scalp biopsy.[28]

Some of the genodermatoses carry malignant potential. CMN, EBD, and EV carry risk of melanoma and squamous cell carcinoma respectively.[25],[29] DS helps in early recognition and monitoring of these conditions.

Few drawbacks of our study are that we could not perform histopathology in all the children due to non-cooperation and lack of consent from their guardians. Due to lack of facility in our institute, we could not perform genetic test for respective genetic conditions. We could not find enough literature about DS of few conditions such as disorders of cornification, genetic blistering disorders, and EV. Hence, in these conditions, we have elaborated our own findings.

  Conclusions Top

DS provides an easy, handy, fast, and noninvasive novel tool for confirming the diagnosis especially for early, confusing lesion of unusual pattern on unusual site, for differentiation and prognosis. It obviates the need for invasive diagnostic procedures, thus making daily practice and examination easier in pediatric age. Parents get satisfied about proper thorough examination of their child which improves doctor–patient compliance. Parents can be counseled regarding the risk of few inherited genodermatoses in next generation.

Our study will add to the very scarce literature available on DS of congenital dermatoses. Furthermore, studies are required to strengthen the evidence of the literature.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

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  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9], [Figure 10]

  [Table 1], [Table 2], [Table 3]


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